A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Abstract:

:A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus can be detected easily by RFLP analysis. The mutation was found in three independent Finnish LHON families but in none of the 60 controls. None of the families with the nt 3460 mutation in ND1 had the previously reported nt 11778 mutation in the ND4 gene. The G-to-A change at nt 3460 is the second mutation so far detected in LHON.

journal_name

Am J Hum Genet

authors

Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

subject

Has Abstract

pub_date

1991-06-01 00:00:00

pages

1147-53

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

48

pub_type

杂志文章
  • The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

    abstract::A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion m...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: McDowell GA,Mules EH,Fabacher P,Shapira E,Blitzer MG

    更新日期:1992-11-01 00:00:00

  • Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

    abstract::Hypotrichosis simplex (HS) comprises a group of hereditary isolated alopecias that are characterized by a diffuse and progressive loss of hair starting in childhood and shows a wide phenotypic variability. We mapped an autosomal-dominant form of HS to chromosome 1q31.3-1q41 in a Spanish family. By direct sequencing, w...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.10.022

    authors: Pasternack SM,Refke M,Paknia E,Hennies HC,Franz T,Schäfer N,Fryer A,van Steensel M,Sweeney E,Just M,Grimm C,Kruse R,Ferrándiz C,Nöthen MM,Fischer U,Betz RC

    更新日期:2013-01-10 00:00:00

  • Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations.

    abstract::Recent studies have suggested that a significant fraction of the human genome is contained in blocks of strong linkage disequilibrium, ranging from ~5 to >100 kb in length, and that within these blocks a few common haplotypes may account for >90% of the observed haplotypes. Furthermore, previous studies have suggested...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/382227

    authors: Crawford DC,Carlson CS,Rieder MJ,Carrington DP,Yi Q,Smith JD,Eberle MA,Kruglyak L,Nickerson DA

    更新日期:2004-04-01 00:00:00

  • Meta-analysis of gene-level associations for rare variants based on single-variant statistics.

    abstract::Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying "causal" rare variants also requires large-scale meta-analysis. The fact that association tests with rare variants are perf...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2013.06.011

    authors: Hu YJ,Berndt SI,Gustafsson S,Ganna A,Genetic Investigation of ANthropometric Traits (GIANT) Consortium.,Hirschhorn J,North KE,Ingelsson E,Lin DY

    更新日期:2013-08-08 00:00:00

  • GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.

    abstract::Although the use of model systems for studying the mechanism of mutations that have a large effect is common, we highlight here the ways that zebrafish-model-system studies of a gene, GRIK5, that contributes to the polygenic liability to develop eye diseases have helped to illuminate a mechanism that implicates vascul...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2019.01.017

    authors: Unlu G,Gamazon ER,Qi X,Levic DS,Bastarache L,Denny JC,Roden DM,Mayzus I,Breyer M,Zhong X,Konkashbaev AI,Rzhetsky A,Knapik EW,Cox NJ

    更新日期:2019-03-07 00:00:00

  • Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

    abstract::Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large c...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.02.010

    authors: Zarouchlioti C,Sanchez-Pintado B,Hafford Tear NJ,Klein P,Liskova P,Dulla K,Semo M,Vugler AA,Muthusamy K,Dudakova L,Levis HJ,Skalicka P,Hysi P,Cheetham ME,Tuft SJ,Adamson P,Hardcastle AJ,Davidson AE

    更新日期:2018-04-05 00:00:00

  • De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    abstract::Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2015.11.006

    authors: Burrage LC,Charng WL,Eldomery MK,Willer JR,Davis EE,Lugtenberg D,Zhu W,Leduc MS,Akdemir ZC,Azamian M,Zapata G,Hernandez PP,Schoots J,de Munnik SA,Roepman R,Pearring JN,Jhangiani S,Katsanis N,Vissers LE,Brunner HG,

    更新日期:2015-12-03 00:00:00

  • Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.

    abstract::Plasma DNA fragmentomics is an emerging area in cell-free DNA diagnostics and research. In murine models, it has been shown that the extracellular DNase, DNASE1L3, plays a role in the fragmentation of plasma DNA. In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with childhood onset...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.09.006

    authors: Chan RWY,Serpas L,Ni M,Volpi S,Hiraki LT,Tam LS,Rashidfarrokhi A,Wong PCH,Tam LHP,Wang Y,Jiang P,Cheng ASH,Peng W,Han DSC,Tse PPP,Lau PK,Lee WS,Magnasco A,Buti E,Sisirak V,AlMutairi N,Chan KCA,Chiu RWK,Reizi

    更新日期:2020-11-05 00:00:00

  • Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

    abstract::Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in i...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.10.017

    authors: Fry AE,Marra C,Derrick AV,Pickrell WO,Higgins AT,Te Water Naude J,McClatchey MA,Davies SJ,Metcalfe KA,Tan HJ,Mohanraj R,Avula S,Williams D,Brady LI,Mesterman R,Tarnopolsky MA,Zhang Y,Yang Y,Wang X,Genomics England R

    更新日期:2021-01-07 00:00:00

  • Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

    abstract::Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2009.06.021

    authors: Klar J,Schweiger M,Zimmerman R,Zechner R,Li H,Törmä H,Vahlquist A,Bouadjar B,Dahl N,Fischer J

    更新日期:2009-08-01 00:00:00

  • Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

    abstract::The fragile X syndrome is due to the new class of dynamic mutations. It is associated with an expansion of a trinucleotide repeat (CGG) in exon 1 of the fragile X mental retardation gene 1 gene (FMR1). Here we present a fragile X family with an unique female patient who was rendered hemizygous for the FRAXA locus due ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/514872

    authors: Grønskov K,Hjalgrim H,Bjerager MO,Brøndum-Nielsen K

    更新日期:1997-10-01 00:00:00

  • A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

    abstract::Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants for many complex diseases; however, these variants explain only a small fraction of the heritability. Recently, genetic association studies that leverage external transcriptome data have received much attention and shown...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.03.019

    authors: Su YR,Di C,Bien S,Huang L,Dong X,Abecasis G,Berndt S,Bezieau S,Brenner H,Caan B,Casey G,Chang-Claude J,Chanock S,Chen S,Connolly C,Curtis K,Figueiredo J,Gala M,Gallinger S,Harrison T,Hoffmeister M,Hopper J,Huy

    更新日期:2018-05-03 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

  • New founder haplotypes at the myotonic dystrophy locus in southern Africa.

    abstract::The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystro...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Goldman A,Ramsay M,Jenkins T

    更新日期:1995-06-01 00:00:00

  • Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits.

    abstract::Subcutaneous adipose tissue stores excess lipids and maintains energy balance. We performed expression quantitative trait locus (eQTL) analyses by using abdominal subcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study. We identified cis-eQTLs for 12,400 genes at a 1% false-discovery...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2017.01.027

    authors: Civelek M,Wu Y,Pan C,Raulerson CK,Ko A,He A,Tilford C,Saleem NK,Stančáková A,Scott LJ,Fuchsberger C,Stringham HM,Jackson AU,Narisu N,Chines PS,Small KS,Kuusisto J,Parks BW,Pajukanta P,Kirchgessner T,Collins FS,G

    更新日期:2017-03-02 00:00:00

  • Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

    abstract::Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Fantes JA,Bickmore WA,Fletcher JM,Ballesta F,Hanson IM,van Heyningen V

    更新日期:1992-12-01 00:00:00

  • Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

    abstract::Classical congenital muscular dystrophies (CMDs) are autosomal recessive neuromuscular disorders characterized by early onset of hypotonia and weakness, atrophy of limbs and trunk muscles, contractures, and dystrophic changes in the muscle biopsy. So far, only one gene, LAMA2 (6q2), which encodes the laminin alpha2 ch...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301882

    authors: Moghadaszadeh B,Desguerre I,Topaloglu H,Muntoni F,Pavek S,Sewry C,Mayer M,Fardeau M,Tomé FM,Guicheney P

    更新日期:1998-06-01 00:00:00

  • A gene for Meckel syndrome maps to chromosome 11q13.

    abstract::Meckel syndrome (MKS) is a rare autosomal recessive lethal condition of unknown origin, characterized by (i) an occipital meningo-encephalocele with (ii) enlarged kidneys, with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and (iii) postaxial polydactyly. A g...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302062

    authors: Roume J,Genin E,Cormier-Daire V,Ma HW,Mehaye B,Attie T,Razavi-Encha F,Fallet-Bianco C,Buenerd A,Clerget-Darpoux F,Munnich A,Le Merrer M

    更新日期:1998-10-01 00:00:00

  • Relationship estimation by Markov-process models in a sib-pair linkage study.

    abstract::The results of sib-pair linkage studies may be compromised if a substantial number of putative sib pairs are not actually sib pairs. For classification of pairs in a sib-pair genome scan, I propose multipoint methods that are based on a Markov-process model of allele sharing along the chromosome. These methods can be ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302360

    authors: Olson JM

    更新日期:1999-05-01 00:00:00

  • A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians.

    abstract::Our previous studies have revealed a higher frequency of nonpolymorphic electrophoretic variants in blood samples from Amerindians than in similar samples from Caucasians and Japanese. Our present study finds, by contrast, that the frequency of deficiency variants of 11 erythrocyte enzymes, sampled in nine Amerindian ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Mohrenweiser HW,Neel JV

    更新日期:1984-05-01 00:00:00

  • Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

    abstract::Dermal fibroblasts from most individuals with osteogenesis imperfecta (OI) type I produce about half the normal amount of type I procollagen, as a result of decreased synthesis of one of its constituent chains, pro alpha 1 (I). To test the hypothesis that decreased synthesis of pro alpha (I) chains results from mutati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Willing MC,Pruchno CJ,Atkinson M,Byers PH

    更新日期:1992-09-01 00:00:00

  • Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

    abstract::A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y an...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Rosenfeld RG,Luzzatti L,Hintz RL,Miller OJ,Koo GC,Wachtel SS

    更新日期:1979-07-01 00:00:00

  • Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.

    abstract::A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and n...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Witkop CJ Jr,White JG,King RA,Dahl MV,Young WG,Sauk JJ Jr

    更新日期:1979-07-01 00:00:00

  • A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

    abstract::Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results o...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/316934

    authors: Leal A,Morera B,Del Valle G,Heuss D,Kayser C,Berghoff M,Villegas R,Hernández E,Méndez M,Hennies HC,Neundörfer B,Barrantes R,Reis A,Rautenstrauss B

    更新日期:2001-01-01 00:00:00

  • Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

    abstract::Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2016.09.010

    authors: Di Donato N,Jean YY,Maga AM,Krewson BD,Shupp AB,Avrutsky MI,Roy A,Collins S,Olds C,Willert RA,Czaja AM,Johnson R,Stover JA,Gottlieb S,Bartholdi D,Rauch A,Goldstein A,Boyd-Kyle V,Aldinger KA,Mirzaa GM,Nissen A,Br

    更新日期:2016-11-03 00:00:00

  • A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.

    abstract::The determination of gene-by-gene and gene-by-environment interactions has long been one of the greatest challenges in genetics. The traditional methods are typically inadequate because of the problem referred to as the "curse of dimensionality." Recent combinatorial approaches, such as the multifactor dimensionality ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/518312

    authors: Lou XY,Chen GB,Yan L,Ma JZ,Zhu J,Elston RC,Li MD

    更新日期:2007-06-01 00:00:00

  • Variability in predicted rates of Down syndrome associated with elevated maternal serum alpha-fetoprotein levels in older women.

    abstract::Quantitative predictions of rates of Down syndrome offspring as a function of maternal serum alpha-fetoprotein (MSAFP) values and of maternal age were reviewed. Comparisons were made of 35-year-equivalent-risk values by maternal age, that is, MSAFP values (at various maternal ages) that predict the risk (of a Down syn...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Hook EB

    更新日期:1988-08-01 00:00:00

  • On the probabilities of identity states in permutable populations.

    abstract::Génin and Clerget-Darpoux recently discussed the derivation of the probabilities of identity states for populations in which there was some degree of kinship, primarily to allow the extension of the classical affected-sib-pair method to such populations. It is argued here that their derivation makes certain assumption...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/301743

    authors: Cannings C

    更新日期:1998-03-01 00:00:00

  • DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.

    abstract::Epigenetic modifications, including DNA methylation, represent a potential mechanism for environmental impacts on human disease. Maternal smoking in pregnancy remains an important public health problem that impacts child health in a myriad of ways and has potential lifelong consequences. The mechanisms are largely unk...

    journal_title:American journal of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.ajhg.2016.02.019

    authors: Joubert BR,Felix JF,Yousefi P,Bakulski KM,Just AC,Breton C,Reese SE,Markunas CA,Richmond RC,Xu CJ,Küpers LK,Oh SS,Hoyo C,Gruzieva O,Söderhäll C,Salas LA,Baïz N,Zhang H,Lepeule J,Ruiz C,Ligthart S,Wang T,Taylor

    更新日期:2016-04-07 00:00:00

  • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

    abstract::Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctiv...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2012.10.019

    authors: Haack TB,Hogarth P,Kruer MC,Gregory A,Wieland T,Schwarzmayr T,Graf E,Sanford L,Meyer E,Kara E,Cuno SM,Harik SI,Dandu VH,Nardocci N,Zorzi G,Dunaway T,Tarnopolsky M,Skinner S,Frucht S,Hanspal E,Schrander-Stumpel C,

    更新日期:2012-12-07 00:00:00