Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

abstract：:Mutations in the KCNJ13 gene that encodes the inwardly rectifying potassium channel Kir7.1 cause snowflake vitreoretinal degeneration (SVD) and leber congenital amaurosis (LCA). Kir7.1 controls the microenvironment between the photoreceptors and the retinal pigment epithelium (RPE) and also contributes to the function...

journal_title：Human mutation

authors： Pattnaik BR,Shahi PK,Marino MJ,Liu X,York N,Brar S,Chiang J,Pillers DA,Traboulsi EI

更新日期：2015-07-01 00:00:00

abstract：:Human alcohol dehydrogenases (ADHs) play important roles in metabolizing alcohol, and several lines of evidence suggest that variations in ADH genes affect the risk for alcoholism. Differences in regulatory sequences could affect the expression of ADH genes and thereby modify the risk for alcoholism. To explore this i...

journal_title：Human mutation

authors： Chen HJ,Tian H,Edenberg HJ

更新日期：2005-02-01 00:00:00

abstract：:Pathogenic GFM1 variants have been linked to neurological phenotypes with or without liver involvement, but only a few cases have been reported in the literature. Here, we report clinical, biochemical, and neuroimaging findings from nine unrelated children carrying GFM1 variants, 10 of which were not previously report...

journal_title：Human mutation

authors： Barcia G,Rio M,Assouline Z,Zangarelli C,Gueguen N,Dumas VD,Marcorelles P,Schiff M,Slama A,Barth M,Hully M,de Lonlay P,Munnich A,Desguerre I,Bonnefont JP,Steffann J,Procaccio V,Boddaert N,Rötig A,Metodiev MD,Ruzzen

更新日期：2020-02-01 00:00:00

abstract：:Fabry disease is caused by mutations in the gene (GLA) that encodes α-galactosidase A (α-Gal A). The iminosugar AT1001 (GR181413A, migalastat hydrochloride, 1-deoxygalactonojirimycin) is a pharmacological chaperone that selectively binds and stabilizes α-Gal A, increasing total cellular levels and activity for some mu...

journal_title：Human mutation

authors： Wu X,Katz E,Della Valle MC,Mascioli K,Flanagan JJ,Castelli JP,Schiffmann R,Boudes P,Lockhart DJ,Valenzano KJ,Benjamin ER

更新日期：2011-08-01 00:00:00

abstract：:Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 ...

journal_title：Human mutation

authors： Priolo M,Schanze D,Tatton-Brown K,Mulder PA,Tenorio J,Kooblall K,Acero IH,Alkuraya FS,Arias P,Bernardini L,Bijlsma EK,Cole T,Coubes C,Dapia I,Davies S,Di Donato N,Elcioglu NH,Fahrner JA,Foster A,González NG,Huber

更新日期：2018-09-01 00:00:00

abstract：:We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have search...

journal_title：Human mutation

authors： Lang J,Boxer M,MacKie R

更新日期：2003-03-01 00:00:00

abstract：:Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular gene involved in pr...

journal_title：Human mutation

authors： Pogoda TV,Krakhmaleva IN,Lipatova NA,Shakhovskaya NI,Shishkin SS,Limborska SA

更新日期：2000-03-01 00:00:00

abstract：:The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcript...

journal_title：Human mutation

authors： Smooker PM,Cotton RG

更新日期：1995-01-01 00:00:00

abstract：:Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mu...

journal_title：Human mutation

authors： de Meeus A,Guittard C,Desgeorges M,Carles S,Demaille J,Claustres M

更新日期：1998-01-01 00:00:00

abstract：:CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is currently offered by commercial laboratories. However, the current status of CACNA1H as a monogenic cause of epilepsy is controversial, highlighted by ClinGen's re...

journal_title：Human mutation

authors： Calhoun JD,Huffman AM,Bellinski I,Kinsley L,Bachman E,Gerard E,Kearney JA,Carvill GL

更新日期：2020-06-01 00:00:00

abstract：:The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as methionine in plasma and urine and decreased levels of cystathionine and cysteine. Ninety-two different disease-associated mu...

journal_title：Human mutation

authors： Kraus JP,Janosík M,Kozich V,Mandell R,Shih V,Sperandeo MP,Sebastio G,de Franchis R,Andria G,Kluijtmans LA,Blom H,Boers GH,Gordon RB,Kamoun P,Tsai MY,Kruger WD,Koch HG,Ohura T,Gaustadnes M

更新日期：1999-01-01 00:00:00

abstract：:Mutation detection based on ribonuclease cleavage of basepair mismatches in single-stranded RNA probes hybridized to DNA targets was first described over 15 years ago. The original methods relied on RNase A for mismatch cleavage; however, this enzyme fails to cleave many mismatches and has other drawbacks. More recent...

journal_title：Human mutation

authors： Goldrick MM

更新日期：2001-09-01 00:00:00

abstract：:We describe a rapid and simple method for phenylketonuria genotyping which identifies five point mutations within exon 12 of the human phenylalanine hydroxylase gene. The method involves PCR amplification of the target exon and hybridization with a PCR-amplifiable synthetic DNA (universal heteroduplex generator, UHG)....

journal_title：Human mutation

authors： Wood N,Tyfield L,Bidwell J

更新日期：1993-01-01 00:00:00

abstract：:The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

journal_title：Human mutation

authors： Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

更新日期：2014-04-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1), an autosomal dominantly-inherited disorder, is mainly characterized by the occurrence of multiple dermal neurofibromas and is caused by mutations in the NF1 gene, a tumor suppressor gene. The variable expressivity of the disease and the lack of a genotype/phenotype correlation prevents ...

journal_title：Human mutation

authors： Wiest V,Eisenbarth I,Schmegner C,Krone W,Assum G

更新日期：2003-12-01 00:00:00

abstract：:Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is c...

journal_title：Human mutation

authors： Denora PS,Schlesinger D,Casali C,Kok F,Tessa A,Boukhris A,Azzedine H,Dotti MT,Bruno C,Truchetto J,Biancheri R,Fedirko E,Di Rocco M,Bueno C,Malandrini A,Battini R,Sickl E,de Leva MF,Boespflug-Tanguy O,Silvestri G,S

更新日期：2009-03-01 00:00:00

abstract：:Chromosomal rearrangements such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytog...

journal_title：Human mutation

authors： Ming JE,Geiger E,James AC,Ciprero KL,Nimmakayalu M,Zhang Y,Huang A,Vaddi M,Rappaport E,Zackai EH,Shaikh TH

更新日期：2006-05-01 00:00:00

abstract：:The use of array technology to define chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and five relatives with deletions of the short arm of chromosome 20 using the Illumina HumanHap550 SNP array to: 1) more ...

journal_title：Human mutation

authors： Kamath BM,Thiel BD,Gai X,Conlin LK,Munoz PS,Glessner J,Clark D,Warthen DM,Shaikh TH,Mihci E,Piccoli DA,Grant SF,Hakonarson H,Krantz ID,Spinner NB

更新日期：2009-03-01 00:00:00

abstract：:Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutation at position 11778, 3460, or 14484. Approximately 14% of families show heteroplasmy for the pathogenic mutations but little is known about the mutational burden in different ti...

journal_title：Human mutation

authors： Juvonen V,Nikoskelainen E,Lamminen T,Penttinen M,Aula P,Savontaus ML

更新日期：1997-01-01 00:00:00

abstract：:Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progr...

journal_title：Human mutation

authors： Kheir V,Cortés-González V,Zenteno JC,Schorderet DF

更新日期：2019-06-01 00:00:00

abstract：:Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populations. No data exist o...

journal_title：Human mutation

authors： Hadjisavvas A,Charalambous E,Adamou A,Christodoulou CG,Kyriacou K

更新日期：2003-02-01 00:00:00

abstract：:Cerebro-costo-mandibular syndrome (CCMS) is a developmental disorder characterized by the association of Pierre Robin sequence and posterior rib defects. Exome sequencing and Sanger sequencing in five unrelated CCMS patients revealed five heterozygous variants in the small nuclear ribonucleoprotein polypeptides B and ...

journal_title：Human mutation

authors： Bacrot S,Doyard M,Huber C,Alibeu O,Feldhahn N,Lehalle D,Lacombe D,Marlin S,Nitschke P,Petit F,Vazquez MP,Munnich A,Cormier-Daire V

更新日期：2015-02-01 00:00:00

abstract：:The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a st...

journal_title：Human mutation

authors： Brookes AJ,Chanock SJ,Hudson TJ,Peltonen L,Abecasis G,Kwok PY,Scherer SW

更新日期：2009-07-01 00:00:00

abstract：:Mucopolysaccharidosis (MPS) describes any inherited lysosomal storage disorder resulting from an inability to catabolize glycosaminoglycans. MPS III (or Sanfilippo syndrome) is an autosomal recessive disease caused by a failure to degrade heparan sulphate. There are four subtypes of MPS III, each categorized by a defi...

journal_title：Human mutation

authors： Fedele AO,Filocamo M,Di Rocco M,Sersale G,Lübke T,di Natale P,Cosma MP,Ballabio A

更新日期：2007-05-01 00:00:00

abstract：:The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation ex...

journal_title：Human mutation

authors： Zastrow DB,Baudet H,Shen W,Thomas A,Si Y,Weaver MA,Lager AM,Liu J,Mangels R,Dwight SS,Wright MW,Dobrowolski SF,Eilbeck K,Enns GM,Feigenbaum A,Lichter-Konecki U,Lyon E,Pasquali M,Watson M,Blau N,Steiner RD,Craige

更新日期：2018-11-01 00:00:00

abstract：:X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It mainly involves the nervous system white matter, adrenal cortex and testes. Several distinct clinical phenotypes are known. The principal biochemical abnormality is the accumulation of saturated very-long-chain fatty acids (VLCFAs : > C...

journal_title：Human mutation

authors： Lachtermacher MB,Seuánez HN,Moser AB,Moser HW,Smith KD

更新日期：2000-01-01 00:00:00

abstract：:Mutations in SNRP200 gene cause autosomal-dominant retinal disorder retinitis pigmentosa (RP). The protein product of SNRNP200 is BRR2, a DExD/H box RNA helicase crucial for pre-mRNA splicing. In this study, we prepared p.S1087L and p.R1090L mutations of human BRR2 using bacterial artificial chromosome recombineering ...

journal_title：Human mutation

authors： Cvačková Z,Matějů D,Staněk D

更新日期：2014-03-01 00:00:00

abstract：:Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and mol...

journal_title：Human mutation

authors： Zhang XJ,He PP,Li M,He CD,Yan KL,Cui Y,Yang S,Zhang KY,Gao M,Chen JJ,Li CR,Jin L,Chen HD,Xu SJ,Huang W

更新日期：2004-06-01 00:00:00

abstract：:Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole-exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homo...

journal_title：Human mutation

authors： Hu TY,Zhang H,Meng LL,Yuan SM,Tu CF,Du J,Lu GX,Lin G,Nie HC,Tan YQ

更新日期：2020-11-10 00:00:00

abstract：:Multiplex ligation-dependent probe amplification (MLPA) is widely used to screen genes of interest for deletions and duplications. Since MLPA is usually based on size-separation of the amplification products, the maximum number of target sequences that can be screened in parallel is usually limited to approximately 40...

journal_title：Human mutation

authors： Zeng F,Ren ZR,Huang SZ,Kalf M,Mommersteeg M,Smit M,White S,Jin CL,Xu M,Zhou DW,Yan JB,Chen MJ,van Beuningen R,Huang SZ,den Dunnen J,Zeng YT,Wu Y

更新日期：2008-01-01 00:00:00