当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Abstract：

:Two familial and seven sporadic patients with neurofibromatosis 1-who showed dysmorphism, learning disabilities/mental retardation, and additional signs and carried deletions of the NF1 gene-were investigated by use of a two-step FISH approach to characterize the deletions. With FISH of YAC clones belonging to a 7-Mb 17q11.2 contig, we estimated the extension of all of the deletions and identified the genomic regions harboring the breakpoints. Mosaicism accounted for the mild phenotype in two patients. In subsequent FISH experiments, performed with locus-specific probes generated from the same YACs by means of a novel procedure, we identified the smallest region of overlapping (SRO), mapped the deletion breakpoints, and identified the genes that map to each deletion interval. From centromere to telomere, the approximately 0.8-Mb SRO includes sequence-tagged site 64381, the SUPT6H gene (encoding a transcription factor involved in chromatin structure), and NF1. Extending telomerically from the SRO, two additional genes-BLMH, encoding a hydrolase involved in bleomycin resistance, and ACCN1, encoding an amiloride-sensitive cation channel expressed in the CNS-were located in the deleted intervals of seven and three patients, respectively. An apparently common centromeric deletion breakpoint was shared by all of the patients, whereas a different telomeric breakpoint defined a deletion interval of 0.8-3 Mb. There was no apparent correlation between the extent of the deletion and the phenotype. This characterization of gross NF1 deletions provides the premise for addressing correctly any genotype-phenotype correlation in the subset of patients with NF1 deletions.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Riva P,Corrado L,Natacci F,Castorina P,Wu BL,Schneider GH,Clementi M,Tenconi R,Korf BR,Larizza L

doi

10.1086/302709

subject

Has Abstract

pub_date

2000-01-01 00:00:00

pages

100-9

issue

1

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62236-8

journal_volume

66

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.

    abstract：:Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DN...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.07.014

    authors： Kherraf ZE,Amiri-Yekta A,Dacheux D,Karaouzène T,Coutton C,Christou-Kent M,Martinez G,Landrein N,Le Tanno P,Fourati Ben Mustapha S,Halouani L,Marrakchi O,Makni M,Latrous H,Kharouf M,Pernet-Gallay K,Gourabi H,Robinson DR

    更新日期：2018-09-06 00:00:00

  • Imputing Phenotypes for Genome-wide Association Studies.

    abstract：:Genome-wide association studies (GWASs) have been successful in detecting variants correlated with phenotypes of clinical interest. However, the power to detect these variants depends on the number of individuals whose phenotypes are collected, and for phenotypes that are difficult to collect, the sample size might be...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2016.04.013

    authors： Hormozdiari F,Kang EY,Bilow M,Ben-David E,Vulpe C,McLachlan S,Lusis AJ,Han B,Eskin E

    更新日期：2016-07-07 00:00:00

  • Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

    abstract：:We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.15...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.05.005

    authors： Rainger J,Pehlivan D,Johansson S,Bengani H,Sanchez-Pulido L,Williamson KA,Ture M,Barker H,Rosendahl K,Spranger J,Horn D,Meynert A,Floyd JA,Prescott T,Anderson CA,Rainger JK,Karaca E,Gonzaga-Jauregui C,Jhangiani S,Mu

    更新日期：2014-06-05 00:00:00

  • CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

    abstract：:We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early dea...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.12.013

    authors： Wortmann SB,Ziętkiewicz S,Kousi M,Szklarczyk R,Haack TB,Gersting SW,Muntau AC,Rakovic A,Renkema GH,Rodenburg RJ,Strom TM,Meitinger T,Rubio-Gozalbo ME,Chrusciel E,Distelmaier F,Golzio C,Jansen JH,van Karnebeek C,Lillqu

    更新日期：2015-02-05 00:00:00

  • Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

    abstract：:The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microde...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/512864

    authors： Potocki L,Bi W,Treadwell-Deering D,Carvalho CM,Eifert A,Friedman EM,Glaze D,Krull K,Lee JA,Lewis RA,Mendoza-Londono R,Robbins-Furman P,Shaw C,Shi X,Weissenberger G,Withers M,Yatsenko SA,Zackai EH,Stankiewicz P,Lupsk

    更新日期：2007-04-01 00:00:00

  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

    abstract：:SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.04.015

    authors： Tolchin D,Yeager JP,Prasad P,Dorrani N,Russi AS,Martinez-Agosto JA,Haseeb A,Angelozzi M,Santen GWE,Ruivenkamp C,Mercimek-Andrews S,Depienne C,Kuechler A,Mikat B,Ludecke HJ,Bilan F,Le Guyader G,Gilbert-Dussardier B,Ker

    更新日期：2020-06-04 00:00:00

  • Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

    abstract：:The lysosomal hydrolase alpha-L-iduronidase (IDUA) is one of the enzymes in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. In humans a deficiency of IDUA leads to the accumulation of glycosaminoglycans, resulting in the lysosomal storage disorder m...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Scott HS,Ashton LJ,Eyre HJ,Baker E,Brooks DA,Callen DF,Sutherland GR,Morris CP,Hopwood JJ

    更新日期：1990-11-01 00:00:00

  • gamma-Aminobutyric acid transaminase (GABAT) polymorphism among ethnic groups in Singapore--with report of a new allele.

    abstract：:gamma-Aminobutyric acid transaminase (GABAT, E.C.2.6.I.19) was phenotyped by starch-gel electrophoresis in post-mortem liver samples from 650 unrelated subjects of either sex, comprising 289 Chinese, 177 Indians, 140 Malays, and 44 from other racial groups from Southeast Asia. The estimated gene frequencies of GABAT1 ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bhattacharyya SP,Saha N,Wee KP

    更新日期：1985-03-01 00:00:00

  • Genotyping Array Design and Data Quality Control in the Million Veteran Program.

    abstract：:The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The size and diversity of the MVP cohort, as well as the availabilit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.03.004

    authors： Hunter-Zinck H,Shi Y,Li M,Gorman BR,Ji SG,Sun N,Webster T,Liem A,Hsieh P,Devineni P,Karnam P,Gong X,Radhakrishnan L,Schmidt J,Assimes TL,Huang J,Pan C,Humphries D,Brophy M,Moser J,Muralidhar S,Huang GD,Przygod

    更新日期：2020-04-02 00:00:00

  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.

    abstract：:It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shashi V,Golden WL,Allinson PS,Blanton SH,von Kap-Herr C,Kelly TE

    更新日期：1996-06-01 00:00:00

  • A resolution of the ascertainment sampling problem. II. Generalizations and numerical results.

    abstract：:The ascertainment problem arises when families are sampled by a nonrandom process and some assumption about this sampling process must be made in order to estimate genetic parameters. Under classical ascertainment assumptions, estimation of genetic parameters cannot be separated from estimation of the parameters of th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Shute NC,Ewens WJ

    更新日期：1988-10-01 00:00:00

  • Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

    abstract：:Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypica...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.10.010

    authors： Luscan R,Mechaussier S,Paul A,Tian G,Gérard X,Defoort-Dellhemmes S,Loundon N,Audo I,Bonnin S,LeGargasson JF,Dumont J,Goudin N,Garfa-Traoré M,Bras M,Pouliet A,Bessières B,Boddaert N,Sahel JA,Lyonnet S,Kaplan J,Cowa

    更新日期：2017-12-07 00:00:00

  • Cardiovascular risk factors in a French-Canadian population: resolution of genetic and familial environmental effects on blood pressure by using extensive information on environmental correlates.

    abstract：:Genetic and environmental influences on systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean arterial blood pressure (MBP) were examined in 371 French-Canadian families by using path analysis. Familial environment was estimated with environmental indices constructed from as many as 14 (of a pool of ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Pérusse L,Rice T,Bouchard C,Vogler GP,Rao DC

    更新日期：1989-08-01 00:00:00

  • The extent of linkage disequilibrium in four populations with distinct demographic histories.

    abstract：:The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between markers. Although there has been extensive theoretical discussion of this, few empirical data exist. The authors have determined the extent of LD among 38 biallelic markers with ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/316906

    authors： Dunning AM,Durocher F,Healey CS,Teare MD,McBride SE,Carlomagno F,Xu CF,Dawson E,Rhodes S,Ueda S,Lai E,Luben RN,Van Rensburg EJ,Mannermaa A,Kataja V,Rennart G,Dunham I,Purvis I,Easton D,Ponder BA

    更新日期：2000-12-01 00:00:00

  • Genes for Good: Engaging the Public in Genetics Research via Social Media.

    abstract：:The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit ("spit kit") to ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.05.006

    authors： Brieger K,Zajac GJM,Pandit A,Foerster JR,Li KW,Annis AC,Schmidt EM,Clark CP,McMorrow K,Zhou W,Yang J,Kwong AM,Boughton AP,Wu J,Scheller C,Parikh T,de la Vega A,Brazel DM,Frieser M,Rea-Sandin G,Fritsche LG,Vrieze

    更新日期：2019-07-03 00:00:00

  • The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

    abstract：:The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-l...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320592

    authors： Gedeon AK,Tiller GE,Le Merrer M,Heuertz S,Tranebjaerg L,Chitayat D,Robertson S,Glass IA,Savarirayan R,Cole WG,Rimoin DL,Kousseff BG,Ohashi H,Zabel B,Munnich A,Gecz J,Mulley JC

    更新日期：2001-06-01 00:00:00

  • WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels.

    abstract：:Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.07.002

    authors： Lee JC,Weissglas-Volkov D,Kyttälä M,Dastani Z,Cantor RM,Sobel EM,Plaisier CL,Engert JC,van Greevenbroek MM,Kane JP,Malloy MJ,Pullinger CR,Huertas-Vazquez A,Aguilar-Salinas CA,Tusie-Luna T,de Bruin TW,Aouizerat BE,van de

    更新日期：2008-08-01 00:00:00

  • Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia.

    abstract：:A total of 752 individuals from The Gambia, west Africa who are representative of the major ethnic groups in the capital, Banjul, were serologically typed for HLA-A, -B, and -C antigens. Although all were typically "African" in their antigenic profiles, some marked frequency differences were found between the ethnic g...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Allsopp CE,Harding RM,Taylor C,Bunce M,Kwiatkowski D,Anstey N,Brewster D,McMichael AJ,Greenwood BM,Hill AV

    更新日期：1992-02-01 00:00:00

  • Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency.

    abstract：:Small low-density lipoprotein (LDL) particles are a genetically influenced coronary disease risk factor. Lipoprotein lipase (LpL) is a rate-limiting enzyme in the formation of LDL particles. The current study examined genetic linkage of LDL particle size to the LpL gene in five families with structural mutations in th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302234

    authors： Hokanson JE,Brunzell JD,Jarvik GP,Wijsman EM,Austin MA

    更新日期：1999-02-01 00:00:00

  • The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.

    abstract：:Two new morphs (F and G) detected by the centromeric alpha satellite probe p alpha 10RP8 and D10Z1 in HinfI digests are linked to the PstI polymorphisms of D10Z1, confirming their chromosome 10 location. The F and G morphs were in strong linkage disequilibrium with each other but were in weak linkage disequilibrium wi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Carson NL,Wu JS,Jackson CE,Kidd KK,Simpson NE

    更新日期：1990-12-01 00:00:00

  • How rapidly does the human mitochondrial genome evolve?

    abstract：:The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 mem...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Howell N,Kubacka I,Mackey DA

    更新日期：1996-09-01 00:00:00

  • Mutations in HPSE2 cause urofacial syndrome.

    abstract：:Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.006

    authors： Daly SB,Urquhart JE,Hilton E,McKenzie EA,Kammerer RA,Lewis M,Kerr B,Stuart H,Donnai D,Long DA,Burgu B,Aydogdu O,Derbent M,Garcia-Minaur S,Reardon W,Gener B,Shalev S,Smith R,Woolf AS,Black GC,Newman WG

    更新日期：2010-06-11 00:00:00

  • Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

    abstract：:Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had micr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/375695

    authors： Veltman JA,Jonkers Y,Nuijten I,Janssen I,van der Vliet W,Huys E,Vermeesch J,Van Buggenhout G,Fryns JP,Admiraal R,Terhal P,Lacombe D,van Kessel AG,Smeets D,Schoenmakers EF,van Ravenswaaij-Arts CM

    更新日期：2003-06-01 00:00:00

  • Widespread signals of convergent adaptation to high altitude in Asia and america.

    abstract：:Living at high altitude is one of the most difficult challenges that humans had to cope with during their evolution. Whereas several genomic studies have revealed some of the genetic bases of adaptations in Tibetan, Andean, and Ethiopian populations, relatively little evidence of convergent evolution to altitude in di...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2014.09.002

    authors： Foll M,Gaggiotti OE,Daub JT,Vatsiou A,Excoffier L

    更新日期：2014-10-02 00:00:00

  • Improved power by use of a weighted score test for linkage disequilibrium mapping.

    abstract：:Association studies offer an exciting approach to finding underlying genetic variants of complex human diseases. However, identification of genetic variants still includes difficult challenges, and it is important to develop powerful new statistical methods. Currently, association methods may depend on single-locus an...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/511312

    authors： Wang T,Elston RC

    更新日期：2007-02-01 00:00:00

  • Mitochondrial DNA polymorphism among five Asian populations.

    abstract：:Mitochondrial DNA (mtDNA) polymorphisms were detected using 13 restriction enzymes on the total DNA obtained from blood samples of five Asian populations: Japanese and Ainu of northern Japan, Korean, Negrito (Aeta) of the Philippines, and Vedda of Sri Lanka. Of a total of 28 restriction-enzyme morphs detected, eight h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Harihara S,Saitou N,Hirai M,Gojobori T,Park KS,Misawa S,Ellepola SB,Ishida T,Omoto K

    更新日期：1988-08-01 00:00:00

  • Does the karyotype of a spontaneous abortion predict the karyotype of a subsequent abortion? Evidence from 273 women with two karyotyped spontaneous abortions.

    abstract：:At least two spontaneous abortions were karyotyped in 273 women during cytogenetic surveys in New York City and Honolulu. These pairs were analyzed using maximum-likelihood logistic-regression analysis to adjust for maternal age and location. There was a significantly increased risk for a chromosomally normal spontane...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Warburton D,Kline J,Stein Z,Hutzler M,Chin A,Hassold T

    更新日期：1987-09-01 00:00:00

  • Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

    abstract：:Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lavedan C,Hofmann-Radvanyi H,Shelbourne P,Rabes JP,Duros C,Savoy D,Dehaupas I,Luce S,Johnson K,Junien C

    更新日期：1993-05-01 00:00:00

  • Identification of a new candidate locus for uric acid nephrolithiasis.

    abstract：:Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all stones, depending on climatic, dietary, and ethnic differences. We stud...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/320105

    authors： Ombra MN,Forabosco P,Casula S,Angius A,Maestrale G,Petretto E,Casu G,Colussi G,Usai E,Melis P,Pirastu M

    更新日期：2001-05-01 00:00:00

  • Testing for genetic linkage in families by a variance-components approach in the presence of genomic imprinting.

    abstract：:Some genes that affect development and behavior in mammals are known to be imprinted; and > or = 1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recent...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338931

    authors： Shete S,Amos CI

    更新日期：2002-03-01 00:00:00