当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A TNNI2 mutation in a family with distal arthrogryposis type 2B.

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Abstract：

:Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (DeltaE167). This mutation, like the two previously described TNNI2 mutations, is located in the carboxy-terminal domain and thus supports the existence of a TNNI2 critical region sensitive to alteration that will give rise to DA. Physical examination of family members confirms the high degree of variability in expression amongst mutation carriers.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Shrimpton AE,Hoo JJ

doi

10.1016/j.ejmg.2005.06.003

keywords:

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

201-6

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(05)00114-X

journal_volume

49

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

    abstract：:Genetic conditions comprise a wide spectrum of different phenotypes, rapidly expanding due to new diagnostic methodologies. Patients' facial features and clinical history represent the key elements leading clinicians to the right diagnosis. CDKL5-early onset epilepsy and Pitt-Hopkins syndrome are two well-known geneti...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104102

    authors： Currò A,Doddato G,Bruttini M,Zollino M,Marangi G,Zappella M,Renieri A,Pinto AM

    更新日期：2021-01-01 00:00:00

  • Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

    abstract：:Osteogenesis imperfecta is a heritable connective tissue disorder characterized by variable symptoms including predisposition to fractures. Despite the identification of numerous mutations, a reliable genotype-phenotype correlation has remained notoriously difficult. We now describe two patients with osteogenesis impe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.10.002

    authors： Reuter MS,Schwabe GC,Ehlers C,Marschall C,Reis A,Thiel C,Graul-Neumann L

    更新日期：2013-12-01 00:00:00

  • Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.

    abstract：BACKGROUND:Recently, biallelic mutations in the Neuroblastoma Amplified Sequence NBAS gene have been identified in ten patients that present recurrent acute liver failure (RALF) in early infancy. In addition to severe liver dysfunction, some of these individuals also suffered from other comorbidities including cardiomy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2015.11.005

    authors： Capo-Chichi JM,Mehawej C,Delague V,Caillaud C,Khneisser I,Hamdan FF,Michaud JL,Kibar Z,Mégarbané A

    更新日期：2015-12-01 00:00:00

  • Oro-dental phenotype in patients with RUNX2 duplication.

    abstract：:Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.05.019

    authors： Merametdjian L,Prud'Homme T,Le Caignec C,Isidor B,Lopez-Cazaux S

    更新日期：2019-02-01 00:00:00

  • Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

    abstract：:Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage hair hypo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2021.104136

    authors： Lugli L,Ciancia S,Bertucci E,Lucaccioni L,Calabrese O,Madeo S,Berardi A,Iughetti L

    更新日期：2021-01-12 00:00:00

  • First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

    abstract：:Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.12.001

    authors： Bedoyan JK,Friez MJ,DuPont B,Ahmad A

    更新日期：2009-07-01 00:00:00

  • Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

    abstract：:Some cases of chromosome 7p22.3 deletions have been reported, but the genotype-phenotype correlation is still uncertain. Neurodevelopmental delay and heart anomalies have been recorded as the most recurrent defects. We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involv...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103772

    authors： Mastromoro G,Capalbo A,Guido CA,Torres B,Fabbretti M,Traversa A,Giancotti A,Ventriglia F,Bernardini L,Spalice A,Pizzuti A

    更新日期：2020-04-01 00:00:00

  • Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.

    abstract：:The EMC1 gene, located on 1p36.13, encodes the subunit 1 of the endoplasmic reticulum-membrane protein complex, a highly conserved and ubiquitous multiprotein transmembrane complex. Pathogenic monoallelic and biallelic variants in EMC1 in humans have been reported only in six families, causing isolated visual impairme...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103897

    authors： Cabet S,Lesca G,Labalme A,Des Portes V,Guibaud L,Sanlaville D,Pons L

    更新日期：2020-06-01 00:00:00

  • Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

    abstract：:Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.12.003

    authors： Maver A,Čuturilo G,Kovanda A,Miletić A,Peterlin B

    更新日期：2019-12-01 00:00:00

  • A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center.

    abstract：OBJECTIVE:To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. METHODS:A total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test an...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104001

    authors： Luo Y,Hu H,Jiang L,Ma Y,Zhang R,Xu J,Pan Y,Long Y,Yao H,Liang Z

    更新日期：2020-09-01 00:00:00

  • BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.

    abstract：:Congenital heart defects (CHD) are associated with the recurrent 10q22q23 deletion syndrome and with partially overlapping distal 10q23.2.q23.31 microdeletions. We report on a de novo intragenic deletion of the BMPR1A gene in a normally developing adolescent boy with short stature, delayed puberty, facial dysmorphism ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.10.003

    authors： Breckpot J,Tranchevent LC,Thienpont B,Bauters M,Troost E,Gewillig M,Vermeesch JR,Moreau Y,Devriendt K,Van Esch H

    更新日期：2012-01-01 00:00:00

  • Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.

    abstract：INTRODUCTION:Chromosome Xq28 duplications encompassing methyl-CpG-binding protein 2 gene (MECP2) are observed most in males with a severe neurodevelopmental disorder associated with hypotonia, spasticity, severe learning disability, delayed psychomotor development, and recurrent pulmonary infections. Most female carrie...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.004

    authors： Yi Z,Pan H,Li L,Wu H,Wang S,Ma Y,Qi Y

    更新日期：2016-06-01 00:00:00

  • A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

    abstract：:We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the dupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2009.01.005

    authors： Hanemaaijer N,Dijkhuizen T,Haadsma M,Boeve M,Boon M,Hordijk R,Kok K,Sikkema-Raddatz B,van Ravenswaaij-Arts CM

    更新日期：2009-03-01 00:00:00

  • A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

    abstract：:Pantothenate kinase-associated neurodegeneration (PKAN) disease is an autosomal recessive neurodegenerative disorder with iron storage in the brain due to PANK2 gene mutations. Brain magnetic resonance imaging (MRI) shows the typical "eye-of-the-tiger" sign. The aim of the present study was to describe clinical, MRI a...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.08.007

    authors： Pérez-González EA,Chacón-Camacho OF,Arteaga-Vázquez J,Zenteno JC,Mutchinick OM

    更新日期：2013-11-01 00:00:00

  • Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999.

    abstract：:To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and 8 BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.11.001

    authors： Chodick G,Struewing JP,Ron E,Rutter JL,Iscovich J

    更新日期：2008-03-01 00:00:00

  • Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

    abstract：:Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no mosaicism in either parent but the mother showed uniparental disomy enco...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.07.018

    authors： Kawai M,Tsutsumi M,Suzuki F,Sameshima K,Dowa Y,Kyoya T,Inagaki H,Kurahashi H

    更新日期：2019-03-01 00:00:00

  • Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

    abstract：:Germline mutations in the WT1 gene have been identified in some families with Wilms tumor. Recently, the CTR9 gene was found to be mutated in three families with Wilms tumor, thus representing a novel predisposition gene for this disease. We identified a family with a history of Wilms tumor characterized by three affe...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.12.010

    authors： Martins AG,Pinto AT,Domingues R,Cavaco BM

    更新日期：2018-05-01 00:00:00

  • A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

    abstract：:Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), va...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.11.012

    authors： Mancini C,Zonta A,Botta G,Breda Klobus A,Valbonesi S,Pasini B,Giorgio E,Viora E,Brusco A,Brussino A

    更新日期：2019-11-01 00:00:00

  • Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

    abstract：:We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in add...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.03.009

    authors： Belligni EF,Hennekam RC

    更新日期：2010-07-01 00:00:00

  • Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

    abstract：:In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Ov...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.01.004

    authors： Mathijssen IB,Henneman L,van Eeten-Nijman JM,Lakeman P,Ottenheim CP,Redeker EJ,Ottenhof W,Meijers-Heijboer H,van Maarle MC

    更新日期：2015-03-01 00:00:00

  • Unusual 8p inverted duplication deletion with telomere capture from 8q.

    abstract：:Inverted 8p duplication deletions are recurrent chromosomal rearrangements that are mediated through non-allelic homologous recombination (NAHR) between olfactory receptor (OR) gene clusters at 8p23.1. These rearrangements result in a proximal inverted duplication of various extent, a single copy region between the OR...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.007

    authors： Buysse K,Antonacci F,Callewaert B,Loeys B,Fränkel U,Siu V,Mortier G,Speleman F,Menten B

    更新日期：2009-01-01 00:00:00

  • Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

    abstract：:Wiedemann-Steiner syndrome (WDSTS) is a very rare genetic disorder characterized by short stature, intellectual disability and distinctive facial appearance. We present a five-year-old boy who was diagnosed with WDSTS based on identification of a novel de novo pathogenic variant in the KMT2A gene (OMIM: 159555) by Who...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2017.03.006

    authors： Aggarwal A,Rodriguez-Buritica DF,Northrup H

    更新日期：2017-06-01 00:00:00

  • Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism.

    abstract：:The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XY,r(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to b...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.08.004

    authors： Gradek GA,Kvistad PH,Houge G

    更新日期：2006-07-01 00:00:00

  • Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

    abstract：:Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor phy...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.104009

    authors： Aerden M,Bauters M,Van Den Bogaert K,Vermeesch JR,Holvoet M,Plasschaert F,Devriendt K

    更新日期：2020-11-01 00:00:00

  • Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

    abstract：:Bilateral multilocular radiolucencies of the mandible are the main feature of cherubism (OMIM #118400), a rare autosomal dominant disorder primarily affecting the jaw. Typically, symmetrical swelling of the lower face is evident from around three years of age and increases until puberty. The underlying radiolucent les...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.12.008

    authors： Prescott T,Redfors M,Rustad CF,Eiklid KL,Geirdal AØ,Storhaug K,Jensen JL

    更新日期：2013-03-01 00:00:00

  • Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family.

    abstract：:Multiple sclerosis is not known to be a risk factor for subsequent development of cancer. Recently, a multiple sclerosis locus was mapped adjacent to BRCA1 gene. We present a familial case affected by multiple sclerosis and cancer. We identified a c.5266dupC (5382insC) frameshift mutation in a 33-year-old woman with b...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.07.006

    authors： Holzmann C,Bauer I,Meyer P

    更新日期：2013-10-01 00:00:00

  • Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.

    abstract：:Choanal atresia causes serious posterior nasal obstruction. This defect is the leading cause of nasal surgery in newborns, although its etiology is largely unknown. Data from the National Birth Defects Prevention Study, a population-based case-control study, were used to examine associations between maternal self-repo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.02.010

    authors： Kancherla V,Romitti PA,Sun L,Carey JC,Burns TL,Siega-Riz AM,Druschel CM,Lin AE,Olney RS,National Birth Defects Prevention Study.

    更新日期：2014-04-01 00:00:00

  • A patient with two mitochondrial DNA mutations causing PEO and LHON.

    abstract：:We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heter...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2008.10.004

    authors： Melberg A,Moslemi AR,Palm O,Raininko R,Stålberg E,Oldfors A

    更新日期：2009-01-01 00:00:00

  • Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

    abstract：:Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.03.011

    authors： Invernizzi F,Zorzi G,Legati A,Coppola G,D'Adamo P,Nardocci N,Garavaglia B,Ghezzi D

    更新日期：2018-10-01 00:00:00

  • A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

    abstract：:Dominant intermediate Charcot-Marie-Tooth disease F (CMTDIF) is an autosomal dominant hereditary form of Charcot-Marie-Tooth disease (CMT) caused by variations in the guanine nucleotide-binding protein, subunit beta-4 gene (GNB4). We examined two Japanese familial cases with CMT. Case 1 was a 49-year-old male whose ch...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.06.006

    authors： Miura S,Morikawa T,Fujioka R,Noda K,Kosaka K,Taniwaki T,Shibata H

    更新日期：2017-09-01 00:00:00