当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

Abstract：

:The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. Genomic DNA mutations affecting the nuclear lamina protein lamin A cause inherited partial lipodystrophy but are not found in patients with APL. Because it also encodes a nuclear lamina protein (lamin B2) and its genomic structure was recently reannotated, we sequenced LMNB2 as a candidate gene in nine white patients with APL. In four patients, we found three new rare mutations in LMNB2: intron 1 -6G-->T, exon 5 c.643G-->A (p.R215Q; in two patients), and exon 8 c.1218G-->A (p.A407T). The combined frequency of these mutations was 0.222 in the patients with APL, compared with 0.0018 in a multiethnic control sample of 1,100 subjects (P = 2.1 x 10-7) and 0.0045 in a sample of 330 white controls (P = 1.2 x 10-5). These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Hegele RA,Cao H,Liu DM,Costain GA,Charlton-Menys V,Rodger NW,Durrington PN

doi

10.1086/505885

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

383-9

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63147-4

journal_volume

79

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • The ancestry of Brazilian mtDNA lineages.

    abstract：:We have analyzed 247 Brazilian mtDNAs for hypervariable segment (HVS)-I and selected restriction fragment-length-polymorphism sites, to assess their ancestry in different continents. The total sample showed nearly equal amounts of Native American, African, and European matrilineal genetic contribution but with regiona...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/303004

    authors： Alves-Silva J,da Silva Santos M,Guimarães PE,Ferreira AC,Bandelt HJ,Pena SD,Prado VF

    更新日期：2000-08-01 00:00:00

  • Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

    abstract：:Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibit this high-SCE/low...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ellis NA,Lennon DJ,Proytcheva M,Alhadeff B,Henderson EE,German J

    更新日期：1995-11-01 00:00:00

  • Robustness and power of the maximum-likelihood-binomial and maximum-likelihood-score methods, in multipoint linkage analysis of affected-sibship data.

    abstract：:The maximum-likelihood-binomial (MLB) method, based on the binomial distribution of parental marker alleles among affected offspring, recently was shown to provide promising results by two-point linkage analysis of affected-sibship data. In this article, we extend the MLB method to multipoint linkage analysis, using t...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301958

    authors： Abel L,Müller-Myhsok B

    更新日期：1998-08-01 00:00:00

  • Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

    abstract：:Although balanced translocations are among the most common human chromosomal aberrations, the constitutional t(11;22)(q23;q11) is the only known recurrent non-Robertsonian translocation. Evidence indicates that de novo formation of the t(11;22) occurs during meiosis. To test the hypothesis that spatial proximity of ch...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/507652

    authors： Ashley T,Gaeth AP,Inagaki H,Seftel A,Cohen MM,Anderson LK,Kurahashi H,Emanuel BS

    更新日期：2006-09-01 00:00:00

  • The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

    abstract：:The recent cloning of cDNA encoding the Ca++ release channel (ryanodine receptor) of human sarcoplasmic reticulum has enabled us to use somatic cell hybrids to localize the ryanodine receptor gene (RYR) to the proximal long arm of human chromosome 19. Studies with additional hybrids containing deletions or translocati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： MacKenzie AE,Korneluk RG,Zorzato F,Fujii J,Phillips M,Iles D,Wieringa B,Leblond S,Bailly J,Willard HF

    更新日期：1990-06-01 00:00:00

  • Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

    abstract：:Thyroid-stimulating hormone (TSH) controls thyroid growth and hormone secretion through binding to its G protein-coupled receptor (TSHR) and production of cyclic AMP (cAMP). Serum TSH is a sensitive indicator of thyroid function, and overt abnormalities in thyroid function lead to common endocrine disorders affecting ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.04.019

    authors： Arnaud-Lopez L,Usala G,Ceresini G,Mitchell BD,Pilia MG,Piras MG,Sestu N,Maschio A,Busonero F,Albai G,Dei M,Lai S,Mulas A,Crisponi L,Tanaka T,Bandinelli S,Guralnik JM,Loi A,Balaci L,Sole G,Prinzis A,Mariotti S,

    更新日期：2008-06-01 00:00:00

  • Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies.

    abstract：:Whole-genome sequencing (WGS) studies are being widely conducted in order to identify rare variants associated with human diseases and disease-related traits. Classical single-marker association analyses for rare variants have limited power, and variant-set-based analyses are commonly used by researchers for analyzing...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.03.002

    authors： Li Z,Li X,Liu Y,Shen J,Chen H,Zhou H,Morrison AC,Boerwinkle E,Lin X

    更新日期：2019-05-02 00:00:00

  • Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.

    abstract：:Joubert syndrome is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. The phenotype is highly variable and may include episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental delay, and mental retardation. Even within sibships the phenotype may vary, makin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302655

    authors： Saar K,Al-Gazali L,Sztriha L,Rueschendorf F,Nur-E-Kamal M,Reis A,Bayoumi R

    更新日期：1999-12-01 00:00:00

  • A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

    abstract：:Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rh...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Inglehearn CF,Bashir R,Lester DH,Jay M,Bird AC,Bhattacharya SS

    更新日期：1991-01-01 00:00:00

  • Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

    abstract：:Two female identical twins who were clinically normal were obligatory heterozygotes for X-linked deuteranomaly associated with a green-red fusion gene derived from their deuteranomalous father. On anomaloscopy, one of the twins was phenotypically deuteranomalous while the other had normal color vision. The color visio...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jørgensen AL,Philip J,Raskind WH,Matsushita M,Christensen B,Dreyer V,Motulsky AG

    更新日期：1992-08-01 00:00:00

  • Multipoint linkage analysis in Menkes disease.

    abstract：:Linkage analyses were performed in 11 families with X-linked Menkes disease. In each family more than one affected patient had been diagnosed. Forty informative meioses were tested using 11 polymorphic DNA markers. From two-point linkage analyses high lod scores are seen for DXS146 (pTAK-8; maximal lod score 3.16 at r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tønnesen T,Petterson A,Kruse TA,Gerdes AM,Horn N

    更新日期：1992-05-01 00:00:00

  • Sex ratio in normal and disomic sperm: evidence that the extra chromosome 21 preferentially segregates with the Y chromosome.

    abstract：:In humans, deviations from a 1:1 male:female ratio have been identified in both chromosomally normal and trisomic live births: among normal newborns there is a slight excess of males, among trisomy 18 live borns a large excess of females, and among trisomy 21 live borns an excess of males. These differences could aris...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Griffin DK,Abruzzo MA,Millie EA,Feingold E,Hassold TJ

    更新日期：1996-11-01 00:00:00

  • A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

    abstract：:Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Klein C,Schilling K,Saunders-Pullman RJ,Garrels J,Breakefield XO,Brin MF,deLeon D,Doheny D,Fahn S,Fink JS,Forsgren L,Friedman J,Frucht S,Harris J,Holmgren G,Kis B,Kurlan R,Kyllerman M,Lang AE,Leung J,Raymond D,R

    更新日期：2000-11-01 00:00:00

  • A test for linkage and association in general pedigrees: the pedigree disequilibrium test.

    abstract：:Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are u...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302957

    authors： Martin ER,Monks SA,Warren LL,Kaplan NL

    更新日期：2000-07-01 00:00:00

  • Evidence for autosomal dominant inheritance of prostate cancer.

    abstract：:A family-history cancer survey was conducted on 5,486 men who underwent a radical prostatectomy, for clinically localized prostate cancer, in the Department of Urology at the Mayo Clinic during 1966-95; 4,288 men responded to the survey. Complex segregation analysis was performed to assess the genetic basis of age at ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301862

    authors： Schaid DJ,McDonnell SK,Blute ML,Thibodeau SN

    更新日期：1998-06-01 00:00:00

  • Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

    abstract：:Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP). Our previous studies showed th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.05.001

    authors： Zhang F,Seeman P,Liu P,Weterman MA,Gonzaga-Jauregui C,Towne CF,Batish SD,De Vriendt E,De Jonghe P,Rautenstrauss B,Krause KH,Khajavi M,Posadka J,Vandenberghe A,Palau F,Van Maldergem L,Baas F,Timmerman V,Lupski JR

    更新日期：2010-06-11 00:00:00

  • A review of limb defects in a large fetus collection.

    abstract：:Although a considerable number of papers have been published dealing with the frequency and variety of genetic and nongenetic limb defects in newborns and to a lesser extent among embryos, little has been published about the range of limb defects among spontaneously aborted middle and late-term fetuses. This study rep...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Stephens TD,Shepard TH

    更新日期：1983-05-01 00:00:00

  • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

    abstract：:We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

    更新日期：1996-04-01 00:00:00

  • HLA and the inheritance of multiple sclerosis: linkage analysis of 72 pedigrees.

    abstract：:Linkage analysis of 72 pedigrees by the maximum-likelihood method provides evidence of linkage between HLA and the hypothesized multiple sclerosis susceptibility gene (MSSG) for both the dominant and recessive models of inheritance and for penetrance values ranging from 5%--65% (or higher). This MSSG, if it exists, is...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tiwari JL,Hodge SE,Terasaki PI,Spence MA

    更新日期：1980-01-01 00:00:00

  • Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

    abstract：:Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits, p35 and p40, which are encoded by IL12A and IL12B, respectively. The first reported patient with a genetic cyto...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/338625

    authors： Picard C,Fieschi C,Altare F,Al-Jumaah S,Al-Hajjar S,Feinberg J,Dupuis S,Soudais C,Al-Mohsen IZ,Génin E,Lammas D,Kumararatne DS,Leclerc T,Rafii A,Frayha H,Murugasu B,Wah LB,Sinniah R,Loubser M,Okamoto E,Al-Ghonaium

    更新日期：2002-02-01 00:00:00

  • Genomewide linkage analysis for internal carotid artery intimal medial thickness: evidence for linkage to chromosome 12.

    abstract：:Carotid intimal medial thickness (IMT) is a heritable quantitative measure of atherosclerosis. A genomewide linkage analysis was conducted to localize a quantitative-trait locus (QTL) influencing carotid IMT. Carotid IMT was measured in 596 men and 629 women from 311 extended families (1,242 sib pairs) in the Framingh...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381559

    authors： Fox CS,Cupples LA,Chazaro I,Polak JF,Wolf PA,D'Agostino RB,Ordovas JM,O'Donnell CJ

    更新日期：2004-02-01 00:00:00

  • Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.

    abstract：:Cells derived from patients with the cancer-prone inherited disorder ataxia-telangiectasia (A-T) show an abnormal response to ionizing radiation-induced DNA damage, such as an increased cell killing and a diminished inhibition of DNA synthesis. The enhanced killing of A-T (group D) cells by X-rays can be corrected by ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jongmans W,Verhaegh GW,Jaspers NG,Oshimura M,Stanbridge EJ,Lohman PH,Zdzienicka MZ

    更新日期：1995-02-01 00:00:00

  • TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

    abstract：:Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large num...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.12.011

    authors： Jansen JC,Timal S,van Scherpenzeel M,Michelakakis H,Vicogne D,Ashikov A,Moraitou M,Hoischen A,Huijben K,Steenbergen G,van den Boogert MA,Porta F,Calvo PL,Mavrikou M,Cenacchi G,van den Bogaart G,Salomon J,Holleboom AG,

    更新日期：2016-02-04 00:00:00

  • Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

    abstract：:Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Tsuchiya K,Reijo R,Page DC,Disteche CM

    更新日期：1995-12-01 00:00:00

  • Duplication of chromosome 10p: confirmation of regional assignments of platelet-type phosphofructokinase.

    abstract：:A proband, clinically thought to have trisomy 10p, was found to have an inverted duplication of 10p [46, XY, inv dup(10)(qter----p15.3::p15.3----p 11.1:)]. The phenotypic findings and cytogenetic observations were supported by relevant biochemical studies. The activity of phosphofructokinase (platelet-type; PFKP), pre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Schwartz S,Cohen MM,Panny SR,Beisel JH,Vora S

    更新日期：1984-07-01 00:00:00

  • Cystic fibrosis carrier population screening in the primary care setting.

    abstract：:To determine the receptivity of prenatal care providers and their patients to carrier testing for cystic fibrosis (CF), we offered free carrier screening, followed by genetic counseling of carriers, to all prenatal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of ...

    journal_title：American journal of human genetics

    pub_type： 临床试验,杂志文章

    doi：

    authors： Loader S,Caldwell P,Kozyra A,Levenkron JC,Boehm CD,Kazazian HH Jr,Rowley PT

    更新日期：1996-07-01 00:00:00

  • Chinese geneticists' views of ethical issues in genetic testing and screening: evidence for eugenics in China.

    abstract：:To identify Chinese geneticists' views of ethical issues in genetic testing and screening, a national survey was conducted. Of 402 Chinese geneticists asked to participate, 255 (63%) returned by mail anonymous questionnaires. The majority of respondents thought that genetic testing should be offered in the workplace f...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302020

    authors： Mao X

    更新日期：1998-09-01 00:00:00

  • Human monoamine oxidase A gene determines levels of enzyme activity.

    abstract：:Monoamine oxidase (MAO) is a critical enzyme in the degradative deamination of biogenic amines throughout the body. Two biochemically distinct forms of the enzyme, A and B, are encoded in separate genes on the human X chromosome. In these studies we investigated the role of the structural gene for MAO-A in determining...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hotamisligil GS,Breakefield XO

    更新日期：1991-08-01 00:00:00

  • Innovations in human genetics education. Medical student elective in clinical genetics.

    abstract：:The fourth-year medical student elective in clinical genetics has been enhanced by the addition of a problem-solving project. The assignment requires students to pose and answer a practical question about a professionally relevant genetic problem. Exemplary questions and the details of the exercise are given. Six of 1...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Bodurtha J,Spence JE,Stevens CA

    更新日期：1991-08-01 00:00:00

  • Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

    abstract：:The use of whole-exome and whole-genome sequencing has been a catalyst for a genotype-first approach to diagnostics. Under this paradigm, we have implemented systematic sequencing of neonates and young children with a suspected genetic disorder. Here, we report on two families with recessive mutations in NCAPG2 and ov...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.11.017

    authors： Khan TN,Khan K,Sadeghpour A,Reynolds H,Perilla Y,McDonald MT,Gallentine WB,Baig SM,Task Force for Neonatal Genomics.,Davis EE,Katsanis N

    更新日期：2019-01-03 00:00:00