当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

Abstract：

:Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Matthijs G,Schollen E,Van Schaftingen E,Cassiman JJ,Jaeken J

doi

10.1086/301763

subject

Has Abstract

pub_date

1998-03-01 00:00:00

pages

542-50

issue

3

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63834-8

journal_volume

62

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

    abstract：:Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletion...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fujita R,Bingham E,Forsythe P,McHenry C,Aita V,Navia BA,Dry K,Segal M,Devoto M,Bruns G,Wright AF,Ott J,Sieving PA,Swaroop A

    更新日期：1996-07-01 00:00:00

  • Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).

    abstract：:We have identified missense mutations at conserved amino acids in the PRPS1 gene on Xq22.3 in two families with a syndromic form of inherited peripheral neuropathy, one of Asian and one of European descent. The disease is inherited in an X-linked recessive manner, and the affected male patients invariably develop sens...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519529

    authors： Kim HJ,Sohn KM,Shy ME,Krajewski KM,Hwang M,Park JH,Jang SY,Won HH,Choi BO,Hong SH,Kim BJ,Suh YL,Ki CS,Lee SY,Kim SH,Kim JW

    更新日期：2007-09-01 00:00:00

  • Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

    abstract：:The microsatellite marker DXS426 maps to the interval Xp21.1-Xp11.21, the chromosomal region which contains two loci for X-linked retinitis pigmentosa (XLRP; RP2 and RP3). We have refined the localization of DXS426 both physically, by mapping it to a deletion which spans the interval Xp21.3-Xp11.23, and genetically, b...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Coleman M,Bhattacharya S,Lindsay S,Wright A,Jay M,Litt M,Craig I,Davies K

    更新日期：1990-12-01 00:00:00

  • Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

    abstract：:Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ~50,000 SNPs in up to 87,736 individuals of European ancestry and combined these in a meta-analy...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,meta分析

    doi：10.1016/j.ajhg.2013.12.016

    authors： Tragante V,Barnes MR,Ganesh SK,Lanktree MB,Guo W,Franceschini N,Smith EN,Johnson T,Holmes MV,Padmanabhan S,Karczewski KJ,Almoguera B,Barnard J,Baumert J,Chang YP,Elbers CC,Farrall M,Fischer ME,Gaunt TR,Gho JM,Gieg

    更新日期：2014-03-06 00:00:00

  • Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

    abstract：:Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyse...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.11.008

    authors： Kichaev G,Bhatia G,Loh PR,Gazal S,Burch K,Freund MK,Schoech A,Pasaniuc B,Price AL

    更新日期：2019-01-03 00:00:00

  • Average heterozygosity revisited.

    abstract：:The estimate of heterozygosity and proportion of polymorphic loci for 33 red blood cell loci has been updated by the elimination of some loci of questionable status and the addition of data on 33 loci. The new figures for heterozygosity and proportion of polymorphic loci, .105 and .283, respectively, are based on 60 r...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Hedrick PW,Murray E

    更新日期：1978-07-01 00:00:00

  • Antenatal diagnosis of glutaric acidemia.

    abstract：:Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric aci...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goodman SI,Gallegos DA,Pullin CJ,Halpern B,Truscott RJ,Wise G,Wilcken B,Ryan ED,Whelen DT

    更新日期：1980-09-01 00:00:00

  • De novo myotonic dystrophy mutation in a Nigerian kindred.

    abstract：:An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and fla...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Krahe R,Eckhart M,Ogunniyi AO,Osuntokun BO,Siciliano MJ,Ashizawa T

    更新日期：1995-05-01 00:00:00

  • A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.

    abstract：:Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.11.020

    authors： Favaro FP,Alvizi L,Zechi-Ceide RM,Bertola D,Felix TM,de Souza J,Raskin S,Twigg SR,Weiner AM,Armas P,Margarit E,Calcaterra NB,Andersen GR,McGowan SJ,Wilkie AO,Richieri-Costa A,de Almeida ML,Passos-Bueno MR

    更新日期：2014-01-02 00:00:00

  • Genomewide search for genes influencing percent body fat in Pima Indians: suggestive linkage at chromosome 11q21-q22. Pima Diabetes Gene Group.

    abstract：:On the basis of accumulating evidence that obesity has a substantial genetic component, a genomewide search for linkages of DNA markers to percent body fat is ongoing in Pima Indians, a population with a very high prevalence of obesity. An initial screen of the genome (>600 markers in 874 individuals) has been complet...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Norman RA,Thompson DB,Foroud T,Garvey WT,Bennett PH,Bogardus C,Ravussin E

    更新日期：1997-01-01 00:00:00

  • A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

    abstract：:Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to but genetically distinct from Marfan syndrome. Genetic-linkage analysis has implicated the fibrillin-2 gene (FBN2) as the CCA locus. Mutation analysis of two isolated CCA patients revealed missense mutation...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/515472

    authors： Maslen C,Babcock D,Raghunath M,Steinmann B

    更新日期：1997-06-01 00:00:00

  • Genetic linkage heterogeneity in myotubular myopathy.

    abstract：:Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies....

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Samson F,Mesnard L,Heimburger M,Hanauer A,Chevallay M,Mercadier JJ,Pelissier JF,Feingold N,Junien C,Mandel JL

    更新日期：1995-07-01 00:00:00

  • Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.

    abstract：:Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302774

    authors： Hundscheid RD,Sistermans EA,Thomas CM,Braat DD,Straatman H,Kiemeney LA,Oostra BA,Smits AP

    更新日期：2000-02-01 00:00:00

  • Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome 1p, and evidence for genetic heterogeneity.

    abstract：:Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47, PND, and D1S160 on seven new families (set B) plus updated versions of six previously reported families (set A). Three l...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Goldstein AM,Dracopoli NC,Ho EC,Fraser MC,Kearns KS,Bale SJ,McBride OW,Clark WH Jr,Tucker MA

    更新日期：1993-03-01 00:00:00

  • Multiplexed Functional Assessment of Genetic Variants in CARD11.

    abstract：:Genetic testing has increased the number of variants identified in disease genes, but the diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an adaptor protein that expresses dominant-negative and gain-of-function variants associated with distinct immunodeficiencies. Here, we used ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.10.015

    authors： Meitlis I,Allenspach EJ,Bauman BM,Phan IQ,Dabbah G,Schmitt EG,Camp ND,Torgerson TR,Nickerson DA,Bamshad MJ,Hagin D,Luthers CR,Stinson JR,Gray J,Lundgren I,Church JA,Butte MJ,Jordan MB,Aceves SS,Schwartz DM,Milner

    更新日期：2020-12-03 00:00:00

  • Age-related somatic structural changes in the nuclear genome of human blood cells.

    abstract：:Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de novo somatic structural variants in normal cells is, however, poorly explored. Using age-stratified cohorts of 318 monozygotic (MZ) twins and 296 single-born subjects, we desc...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.12.009

    authors： Forsberg LA,Rasi C,Razzaghian HR,Pakalapati G,Waite L,Thilbeault KS,Ronowicz A,Wineinger NE,Tiwari HK,Boomsma D,Westerman MP,Harris JR,Lyle R,Essand M,Eriksson F,Assimes TL,Iribarren C,Strachan E,O'Hanlon TP,Rider L

    更新日期：2012-02-10 00:00:00

  • Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

    abstract：:Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Ryynänen M,Knowlton RG,Uitto J

    更新日期：1991-11-01 00:00:00

  • Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees.

    abstract：:We studied mutations in the mtDNA control region (CR) using deep-rooting French-Canadian pedigrees. In 508 maternal transmissions, we observed four substitutions (0.0079 per generation per 673 bp, 95% CI 0.0023-0.186). Combined with other familial studies, our results add up to 18 substitutions in 1,729 transmissions ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/324024

    authors： Heyer E,Zietkiewicz E,Rochowski A,Yotova V,Puymirat J,Labuda D

    更新日期：2001-11-01 00:00:00

  • Functional complementation of a genetic deficiency with human artificial chromosomes.

    abstract：:We have shown functional complementation of a genetic deficiency in human cultured cells, using artificial chromosomes derived from cloned human genomic fragments. A 404-kb human-artificial-chromosome (HAC) vector, consisting of 220 kb of alphoid DNA from the centromere of chromosome 17, human telomeres, and the hypox...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/321977

    authors： Mejía JE,Willmott A,Levy E,Earnshaw WC,Larin Z

    更新日期：2001-08-01 00:00:00

  • Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region.

    abstract：:Pregnancy-induced hypertension may be regarded as a manifestation of endothelial-cell dysfunction. The role of the eNOS gene in the development of a familial pregnancy-induced hypertension was evaluated by analysis of linkage among affected sisters and in multiplex families (n = 50). Markers from a 4-cM region encodin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/514843

    authors： Arngrímsson R,Hayward C,Nadaud S,Baldursdóttir A,Walker JJ,Liston WA,Bjarnadóttir RI,Brock DJ,Geirsson RT,Connor JM,Soubrier F

    更新日期：1997-08-01 00:00:00

  • Power comparison of parametric and nonparametric linkage tests in small pedigrees.

    abstract：:When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we intro...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302888

    authors： Sham PC,Lin MW,Zhao JH,Curtis D

    更新日期：2000-05-01 00:00:00

  • Gain-of-function mutations in SCN11A cause familial episodic pain.

    abstract：:Many ion channel genes have been associated with human genetic pain disorders. Here we report two large Chinese families with autosomal-dominant episodic pain. We performed a genome-wide linkage scan with microsatellite markers after excluding mutations in three known genes (SCN9A, SCN10A, and TRPA1) that cause simila...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2013.09.016

    authors： Zhang XY,Wen J,Yang W,Wang C,Gao L,Zheng LH,Wang T,Ran K,Li Y,Li X,Xu M,Luo J,Feng S,Ma X,Ma H,Chai Z,Zhou Z,Yao J,Zhang X,Liu JY

    更新日期：2013-11-07 00:00:00

  • DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

    abstract：:Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports have identified, in individuals with dominant Robinow syndrome, a specific type of variant characterized by being uniformly located in the penultimate exon of D...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.01.005

    authors： White JJ,Mazzeu JF,Hoischen A,Bayram Y,Withers M,Gezdirici A,Kimonis V,Steehouwer M,Jhangiani SN,Muzny DM,Gibbs RA,Baylor-Hopkins Center for Mendelian Genomics.,van Bon BWM,Sutton VR,Lupski JR,Brunner HG,Carvalho CMB

    更新日期：2016-03-03 00:00:00

  • Maternal effects on fingertip dermatoglyphics.

    abstract：:Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ri...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Reed T,Evans MM,Norton JA Jr,Christian JC

    更新日期：1979-05-01 00:00:00

  • Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

    abstract：:The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases have different clinical presentations but have a similar abnormality of copper transport. Mice hemizygous for the blotchy allele of the X-linked mottled locus have similar connective-tissue de...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Das S,Levinson B,Vulpe C,Whitney S,Gitschier J,Packman S

    更新日期：1995-03-01 00:00:00

  • mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations.

    abstract：:The mtDNA variation of 74 Khoisan-speaking individuals (Kung and Khwe) from Schmidtsdrift, in the Northern Cape Province of South Africa, was examined by high-resolution RFLP analysis and control region (CR) sequencing. The resulting data were combined with published RFLP haplotype and CR sequence data from sub-Sahara...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302848

    authors： Chen YS,Olckers A,Schurr TG,Kogelnik AM,Huoponen K,Wallace DC

    更新日期：2000-04-01 00:00:00

  • Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes.

    abstract：:Linkage is a phenomenon that correlates the genotypes of loci, rather than the phenotypes of one locus to the genotypes of another. It is therefore necessary to convert the observed trait phenotypes into trait-locus genotypes, which can then be analyzed for coinheritance with marker-locus genotypes. However, if the mo...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302797

    authors： Göring HH,Terwilliger JD

    更新日期：2000-03-01 00:00:00

  • De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

    abstract：:Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-exp...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2016.03.002

    authors： Fregeau B,Kim BJ,Hernández-García A,Jordan VK,Cho MT,Schnur RE,Monaghan KG,Juusola J,Rosenfeld JA,Bhoj E,Zackai EH,Sacharow S,Barañano K,Bosch DGM,de Vries BBA,Lindstrom K,Schroeder A,James P,Kulch P,Lalani SR,van

    更新日期：2016-05-05 00:00:00

  • Juvenile hemochromatosis locus maps to chromosome 1q.

    abstract：:Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life. Affected members in families with JH do not show linkage to chromosome 6p and do not have mutations in the HFE gene that lead to the common hereditary hemochromatosis. In this study we per...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302379

    authors： Roetto A,Totaro A,Cazzola M,Cicilano M,Bosio S,D'Ascola G,Carella M,Zelante L,Kelly AL,Cox TM,Gasparini P,Camaschella C

    更新日期：1999-05-01 00:00:00

  • Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    abstract：:ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2008.06.006

    authors： Rommelse NN,Arias-Vásquez A,Altink ME,Buschgens CJ,Fliers E,Asherson P,Faraone SV,Buitelaar JK,Sergeant JA,Oosterlaan J,Franke B

    更新日期：2008-07-01 00:00:00