当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

Abstract：

:Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenita, a chloride-channel disorder. HypoPP is characterized by acute attacks of muscle weakness concomitant with a fall in blood potassium levels. We recently localized the hypoPP locus (hypoPP1) to chromosome 1q31-32, in an interval where the alpha 1 subunit of the dihydropyridine receptor calcium channel (CACNL1A3) also maps. Subsequently, deleterious mutations in the voltage-sensor segment S4 were found, establishing the dihydropyridine receptor CACNL1A3 as the causative gene for hypoPP. In this paper, we report the study of 16 hypoPP families of Caucasian origin. We found only two mutations--Arg528His and Arg1239His--that cosegregated with hypoPP, each in half of the families. Analysis of the clinical characteristics of both groups of families demonstrated that incomplete penetrance is a distinctive feature of the Arg528His mutation. Using dinucleotide repeats contained within or close to the dihydropyridine receptor gene, in conjunction with evidence of a de novo Arg1239His mutation, we show that a founder effect is unlikely to account for the two predominant mutations.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Elbaz A,Vale-Santos J,Jurkat-Rott K,Lapie P,Ophoff RA,Bady B,Links TP,Piussan C,Vila A,Monnier N

subject

Has Abstract,Author List Incomplete

pub_date

1995-02-01 00:00:00

pages

374-80

issue

2

eissn

0002-9297

issn

1537-6605

journal_volume

56

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.

    abstract：:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.04.001

    authors： So HC,Kwan JS,Cherny SS,Sham PC

    更新日期：2011-05-13 00:00:00

  • Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.

    abstract：:Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzi...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.12.007

    authors： Galatà G,García-Montero AC,Kristensen T,Dawoud AAZ,Muñoz-González JI,Meggendorfer M,Guglielmelli P,Hoade Y,Alvarez-Twose I,Gieger C,Strauch K,Ferrucci L,Tanaka T,Bandinelli S,Schnurr TM,Haferlach T,Broesby-Olsen S,Veste

    更新日期：2021-01-04 00:00:00

  • Biases and reconciliation in estimates of linkage disequilibrium in the human genome.

    abstract：:Genetic association studies of common disease often rely on linkage disequilibrium (LD) along the human genome and in the population under study. Although understanding the characteristics of this correlation has been the focus of many large-scale surveys (culminating in genomewide haplotype maps), the results of diff...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/502803

    authors： Pe'er I,Chretien YR,de Bakker PI,Barrett JC,Daly MJ,Altshuler DM

    更新日期：2006-04-01 00:00:00

  • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

    abstract：:A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosome...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Kremer B,Almqvist E,Theilmann J,Spence N,Telenius H,Goldberg YP,Hayden MR

    更新日期：1995-08-01 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

  • Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.

    abstract：:A reproducible and convenient method for assaying glucocerebrosidase activity using the natural substrates has been developed. From the insoluble pellet fraction of cultured skin fibroblast homogenates, released glucose was measured enzymically using hexokinase coupled with the glucose-6-phosphate dehydrogenase (G6PD)...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Choy FY,Davidson RG

    更新日期：1980-09-01 00:00:00

  • Linkage disequilibrium in the insulin gene region: size variation at the 5' flanking polymorphism and bimodality among "class I" alleles.

    abstract：:The 5' flanking polymorphism (5'FP), a hypervariable region at the 5' end of the insulin gene, has "class 1" alleles (650-900 bp long) that are in positive linkage disequilibrium with insulin-dependent diabetes mellitus (IDDM). We report that precise sizing of the 5'FP yields a bimodal frequency distribution of class ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McGinnis RE,Spielman RS

    更新日期：1994-09-01 00:00:00

  • Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

    abstract：:Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inherited as an autosom...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302895

    authors： Touraine RL,Attié-Bitach T,Manceau E,Korsch E,Sarda P,Pingault V,Encha-Razavi F,Pelet A,Augé J,Nivelon-Chevallier A,Holschneider AM,Munnes M,Doerfler W,Goossens M,Munnich A,Vekemans M,Lyonnet S

    更新日期：2000-05-01 00:00:00

  • Sample-size considerations and strategies for linkage analysis in autosomal recessive disorders.

    abstract：:The opportunity raised by recombinant DNA technology to develop a linkage marker panel that spans the human genome requires cost-efficient strategies for its optimal utilization. Questions arise as to whether it is more cost-effective to convert a dimorphic restriction enzyme marker system into a highly polymorphic sy...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Wong FL,Cantor RM,Rotter JI

    更新日期：1986-07-01 00:00:00

  • The two-mutational-event theory in medullary thyroid cancer.

    abstract：:Comparisons are presented of the ages of onset of 20 cases of hereditary medullary carcinoma of the thyroid (MCT) and of 22 sporadic cases of this same type of cancer. These data are compatible with what might be expected by the two-mutational-event theory of the initiation of cancer postulated by Knudson. It had been...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Jackson CE,Block MA,Greenawald KA,Tashjian AH Jr

    更新日期：1979-11-01 00:00:00

  • Genetic heterogeneity of insulin-dependent (type I) diabetes mellitus: evidence from a study of extended haplotypes.

    abstract：:Two hundred subjects with insulin-dependent (type I) diabetes mellitus (IDDM) were typed for HLA-B, HLA-DR, and properdin factor B (Bf). HLA and Bf antigen and haplotype frequencies in subjects were compared with control frequencies derived from the 8th HLA Workshop. Frequencies of extended haplotypes (defined by B-Bf...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Rich SS,Weitkamp LR,Barbosa J

    更新日期：1984-09-01 00:00:00

  • In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

    abstract：:Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.10.002

    authors： Carmignac V,Thevenon J,Adès L,Callewaert B,Julia S,Thauvin-Robinet C,Gueneau L,Courcet JB,Lopez E,Holman K,Renard M,Plauchu H,Plessis G,De Backer J,Child A,Arno G,Duplomb L,Callier P,Aral B,Vabres P,Gigot N,Arbu

    更新日期：2012-11-02 00:00:00

  • Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

    abstract：:We report here the characterization of a large Chinese family with maternally transmitted aminoglycoside-induced and nonsyndromic deafness. In the absence of aminoglycosides, some matrilineal relatives in this family exhibited late-onset/progressive deafness, with a wide range of severity and age at onset. Notably, th...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381133

    authors： Zhao H,Li R,Wang Q,Yan Q,Deng JH,Han D,Bai Y,Young WY,Guan MX

    更新日期：2004-01-01 00:00:00

  • Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

    abstract：:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302096

    authors： DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

    更新日期：1998-11-01 00:00:00

  • Genomic disorders on 22q11.

    abstract：:The 22q11 region is involved in chromosomal rearrangements that lead to altered gene dosage, resulting in genomic disorders that are characterized by mental retardation and/or congenital malformations. Three such disorders-cat-eye syndrome (CES), der(22) syndrome, and velocardiofacial syndrome/DiGeorge syndrome (VCFS/...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1086/340363

    authors： McDermid HE,Morrow BE

    更新日期：2002-05-01 00:00:00

  • Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

    abstract：:Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidating the underlying genetic cause could lead to a greater understandin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.03.020

    authors： Kirwan M,Walne AJ,Plagnol V,Velangi M,Ho A,Hossain U,Vulliamy T,Dokal I

    更新日期：2012-05-04 00:00:00

  • HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.

    abstract：:The heterogeneous nuclear ribonucleoprotein (HNRNP) genes code for a set of RNA-binding proteins that function primarily in the spliceosome C complex. Pathogenic variants in these genes can drive neurodegeneration, through a mechanism involving excessive stress-granule formation, or developmental defects, through mech...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.03.024

    authors： Duijkers FA,McDonald A,Janssens GE,Lezzerini M,Jongejan A,van Koningsbruggen S,Leeuwenburgh-Pronk WG,Wlodarski MW,Moutton S,Tran-Mau-Them F,Thauvin-Robinet C,Faivre L,Monaghan KG,Smol T,Boute-Benejean O,Ladda RL,Sell SL,

    更新日期：2019-06-06 00:00:00

  • Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes.

    abstract：:Heteroplasmy, the existence of multiple mtDNA types within an individual, has been previously detected by using mostly indirect methods and focusing largely on just the hypervariable segments of the control region. Next-generation sequencing technologies should enable studies of heteroplasmy across the entire mtDNA ge...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.07.014

    authors： Li M,Schönberg A,Schaefer M,Schroeder R,Nasidze I,Stoneking M

    更新日期：2010-08-13 00:00:00

  • Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.

    abstract：:Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a gene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/342732

    authors： Smalley SL,Kustanovich V,Minassian SL,Stone JL,Ogdie MN,McGough JJ,McCracken JT,MacPhie IL,Francks C,Fisher SE,Cantor RM,Monaco AP,Nelson SF

    更新日期：2002-10-01 00:00:00

  • Bayesian mapping of quantitative trait loci for multiple complex traits with the use of variance components.

    abstract：:Complex traits important for humans are often correlated phenotypically and genetically. Joint mapping of quantitative-trait loci (QTLs) for multiple correlated traits plays an important role in unraveling the genetic architecture of complex traits. Compared with single-trait analysis, joint mapping addresses more que...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/519495

    authors： Liu J,Liu Y,Liu X,Deng HW

    更新日期：2007-08-01 00:00:00

  • Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.

    abstract：:X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Strain L,Gosden CM,Brock DJ,Bonthron DT

    更新日期：1994-02-01 00:00:00

  • Canine behavioral genetics: pointing out the phenotypes and herding up the genes.

    abstract：:An astonishing amount of behavioral variation is captured within the more than 350 breeds of dog recognized worldwide. Inherent in observations of dog behavior is the notion that much of what is observed is breed specific and will persist, even in the absence of training or motivation. Thus, herding, pointing, trackin...

    journal_title：American journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ajhg.2007.12.001

    authors： Spady TC,Ostrander EA

    更新日期：2008-01-01 00:00:00

  • Multipoint estimation of genetic maps for human trisomies with one parent or other partial data.

    abstract：:Centromeric-mapping methods have been used to investigate the association between altered recombination and meiotic nondisjunction in humans. For trisomies, current methods are based on the genotypes from a trisomic offspring and both parents. Because it is sometimes difficult to obtain samples from both parents and b...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302799

    authors： Feingold E,Brown AS,Sherman SL

    更新日期：2000-03-01 00:00:00

  • Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.

    abstract：:In the present work, we demonstrate the possibility of using human blood platelets as mitochondrial donors for the repopulation of mtDNA-less (rho 0) cells. The noninvasive nature of platelet isolation, combined with the prolonged viability of platelet mitochondria and the simplicity and efficiency of the mitochondria...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Chomyn A,Lai ST,Shakeley R,Bresolin N,Scarlato G,Attardi G

    更新日期：1994-06-01 00:00:00

  • Diverse mutations in patients with Menkes disease often lead to exon skipping.

    abstract：:Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All of the mutations would...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

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

    更新日期：1994-11-01 00:00:00

  • Jump from pre-mutation to pathologic expansion in C9orf72.

    abstract：:An expanded G4C2 repeat in C9orf72 represents the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). However, the lower limit for pathological expansions is unknown (the suggested cutoff is 30 repeats). It has been proposed that the expansion might have...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.04.016

    authors： Xi Z,van Blitterswijk M,Zhang M,McGoldrick P,McLean JR,Yunusova Y,Knock E,Moreno D,Sato C,McKeever PM,Schneider R,Keith J,Petrescu N,Fraser P,Tartaglia MC,Baker MC,Graff-Radford NR,Boylan KB,Dickson DW,Mackenzie IR

    更新日期：2015-06-04 00:00:00

  • Familial transmission of the FMR1 CGG repeat.

    abstract：:To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4% of offspring from premutation mothers with 56-59 repeats, 20....

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Nolin SL,Lewis FA 3rd,Ye LL,Houck GE Jr,Glicksman AE,Limprasert P,Li SY,Zhong N,Ashley AE,Feingold E,Sherman SL,Brown WT

    更新日期：1996-12-01 00:00:00

  • The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

    abstract：:To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial ovarian cancer. Germline mutations were found in 43% of the families; BRCA1...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302583

    authors： Gayther SA,Russell P,Harrington P,Antoniou AC,Easton DF,Ponder BA

    更新日期：1999-10-01 00:00:00

  • Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

    abstract：:Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when delete...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2018.02.015

    authors： Sang Q,Li B,Kuang Y,Wang X,Zhang Z,Chen B,Wu L,Lyu Q,Fu Y,Yan Z,Mao X,Xu Y,Mu J,Li Q,Jin L,He L,Wang L

    更新日期：2018-04-05 00:00:00

  • Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.

    abstract：:Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. A...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lefranc G,Rivat L,Rivat C,Loiselet J,Ropartz C

    更新日期：1976-01-01 00:00:00