当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Abstract：

:Copy number variations (CNVs) of the CNTN6 gene - a member of the contactin gene superfamily - have been previously proposed to have an association with neurodevelopmental and autism spectrum disorders. However, no functional evidence has been provided to date and phenotypically normal and mildly affected carriers complicate the interpretation of this aberration. In view of conflicting reports on the pathogenicity of CNVs involving CNTN6 and association with different phenotypes, we, independently, evaluated clinical features of nineteen patients with detected CNV of CNTN6 as part of their clinical microarray analysis at Children's Mercy and Nationwide Children's Hospitals for the period of 2008-2015. The clinical presentations of these patients were variable making it difficult to establish genotype-phenotype correlations. CNVs were inherited in six patients. For thirteen patients, inheritance pattern was not established due to unavailability of parental samples for testing. In three cases CNV was inherited from a healthy parent and in three cases from a parent with neurodevelopmental symptoms. Of the nineteen patients, four had a separate genetic abberation in addition to CNV of the CNTN6 that could independently explain their respective phenotypes. Separately, CNTN6 sequencing was performed on an autism spectrum disorder (ASD) research cohort of 94 children from 80 unrelated families. We found no difference in frequency of rare coding variants between the cohort of patients and controls. We conclude that CNVs involving CNTN6 alone seem to be most likely a neutral variant or a possible modifier rather than a disease-causing variant. Patients with CNVs encompassing CNTN6 could benefit from additional genetic testing since a clinical diagnosis due to a CNV of CNTN6 alone is still questionable.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Repnikova EA,Lyalin DA,McDonald K,Astbury C,Hansen-Kiss E,Cooley LD,Pfau R,Herman GE,Pyatt RE,Hickey SE

doi

10.1016/j.ejmg.2019.02.008

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

103636

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(18)30788-2

journal_volume

63

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.

    abstract：:Chromosomal imbalance of the 17q12 region (which includes the HNF1B transcription factor) has recently emerged as a frequent condition. 17q12 deletion was found in patients with various renal abnormalities, diabetes mellitus (MODY type 5), genital tract or liver test abnormalities, while 17q12 duplication was identifi...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.03.010

    authors： Faguer S,Chassaing N,Bandin F,Prouheze C,Arveiler B,Rooryck C,Nogier MB,Chauveau D,Calvas P,Decramer S

    更新日期：2011-07-01 00:00:00

  • A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

    abstract：:We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2007.09.003

    authors： Rooryck C,Burgelin I,Stef M,Taine L,Thambo JB,Lacombe D,Arveiler B

    更新日期：2008-01-01 00:00:00

  • A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

    abstract：:Mental retardation (MR) is the most frequent cause of serious handicap in children and young adults. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Linkage studies followed by mutational analysis of known X-chromosomal genes related to mental retardation (MRX gene...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.01.010

    authors： Rejeb I,Ben Jemaa L,Abaied L,Kraoua L,Saillour Y,Maazoul F,Chelly J,Chaabouni H

    更新日期：2011-05-01 00:00:00

  • HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy.

    abstract：:A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.06.004

    authors： Millat G,Janin A,de Tauriac O,Roux A,Dauphin C

    更新日期：2015-09-01 00:00:00

  • Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.

    abstract：:Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino acids (BCAAs). Only a few cases of MSUD have been documented in Mainland China, and prenatal diagnosis has not been performed so far. In this report, 8 patients (4 girls and 4 boys) with MSUD fr...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.10.002

    authors： Li X,Ding Y,Liu Y,Ma Y,Song J,Wang Q,Li M,Qin Y,Yang Y

    更新日期：2015-11-01 00:00:00

  • Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks.

    abstract：:Prenatal testing for fetal genetic traits and risk of obstetrical complications is essential for maternal-fetal healthcare. The migration of extravillous trophoblast (EVT) cells from the placenta into the reproductive tract and accumulation in the cervix offers an exciting avenue for prenatal testing and monitoring pl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103690

    authors： Kadam L,Jain C,Kohan-Ghadr HR,Krawetz SA,Drewlo S,Armant DR

    更新日期：2019-08-01 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

  • Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

    abstract：:The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microdupl...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.06.010

    authors： Qiao Y,Bagheri H,Tang F,Badduke C,Martell S,Lewis SME,Robinson W,Connolly MB,Arbour L,Rajcan-Separovic E

    更新日期：2019-02-01 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

  • Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

    abstract：:We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intra...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2006.03.004

    authors： Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

    更新日期：2006-11-01 00:00:00

  • A new mutation in COG7 extends the spectrum of COG subunit deficiencies.

    abstract：:We describe a patient homozygous for a novel mutation in COG7, coding for one of the subunits of the Conserved Oligomeric Golgi complex, involved in retrograde vesicular trafficking. His brother showed a similar clinical syndrome and glycosylation defect but no DNA could be obtained from this patient. This mutation, c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.06.006

    authors： Zeevaert R,Foulquier F,Cheillan D,Cloix I,Guffon N,Sturiale L,Garozzo D,Matthijs G,Jaeken J

    更新日期：2009-09-01 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

  • The impact of thalidomide use in birth defects in Brazil.

    abstract：:Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Braz...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.09.015

    authors： Sales Luiz Vianna F,Kowalski TW,Fraga LR,Sanseverino MT,Schuler-Faccini L

    更新日期：2017-01-01 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

  • Familial KANK1 deletion that does not follow expected imprinting pattern.

    abstract：:Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.02.006

    authors： Vanzo RJ,Martin MM,Sdano MR,South ST

    更新日期：2013-05-01 00:00:00

  • Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

    abstract：:Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103812

    authors： Smol T,Ribero-Karrouz W,Edery P,Gorduza DB,Catteau-Jonard S,Manouvrier-Hanu S,Ghoumid J

    更新日期：2020-04-01 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 mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

    abstract：:Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital disorders characterized by multiple joint contractures. We report a family with two children affected with AMC. First child had a severe AMC phenotype and died in infancy. Second child, currently 4-years-old, was ascertained at the age of ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2019.103756

    authors： Mishra S,Rai A,Srivastava P,Phadke SR

    更新日期：2020-03-01 00:00:00

  • Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

    abstract：:Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a p...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.11.002

    authors： Mochel F,Missirian C,Reynaud R,Moncla A

    更新日期：2008-01-01 00:00:00

  • A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

    abstract：:"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.05.007

    authors： Rafati M,Mohamadhashem F,Hoseini A,Hoseininasab F,Ghaffari SR

    更新日期：2016-06-01 00:00:00

  • Monozygotic twins discordant for vascular malformations and dysregulated growth.

    abstract：:There is a large group of disorders characterized by non-cranial vascular malformations and a dysregulated growth, of which the prototype may be Klippel-Trenaunay syndrome (KTS). The aetiology of KTS and vascular malformations-dysregulated growth (VM-DG) syndromes resembling KTS is obscure, but polygenic paradominant ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2009.08.004

    authors： Oduber CE,Bliek J,van der Horst CM,van Steensel MA,Hennekam RC

    更新日期：2010-01-01 00:00:00

  • Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

    abstract：:Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and st...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103952

    authors： Rios-Flores IM,Bonal-Pérez MÁ,Castellanos-González A,Velez-Gómez E,Bertoli-Avella AM,Bobadilla-Morales L,Peña-Padilla C,Appendini-Andrade V,Corona-Rivera A,Romero-Valenzuela I,Corona-Rivera JR

    更新日期：2020-08-01 00:00:00

  • Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

    abstract：:We present three unrelated children with distinctive congenital facial skin lesions. All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of the mouth. Patient 1 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2005.06.005

    authors： Prescott T,Devriendt K,Hamel B,Pasch MC,Peeters H,Vander Poorten V,Tallerås O

    更新日期：2006-03-01 00:00:00

  • Periapical cemental dysplasia is common in women with NF1.

    abstract：BACKGROUND:Neurofibromatosis type 1 (NF1) is a genetic disorder with skeletal involvement. Periapical cemental dysplasia is a rare finding in the normal population. METHOD:A total of 55 patients with NF1, 29 female and 26 male patients, were evaluated with orthopantomograms, supplemented with periapical radiographs if...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.04.001

    authors： Visnapuu V,Peltonen S,Ellilä T,Kerosuo E,Väänänen K,Happonen RP,Peltonen J

    更新日期：2007-07-01 00:00:00

  • Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

    abstract：:Despite numerous clinical series, consistent karyotype-phenotype correlations for Turner syndrome have not been established, although a lower level of 45,X is generally thought to be associated with a milder phenotype. This limits personalized counseling for women with 45,X/46,XX mosaicism. To better understand the ph...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2021.104140

    authors： Snyder EA,San Roman AK,Piña-Aguilar RE,Steeves MA,McNamara EA,Souter I,Hayes FJ,Levitsky LL,Lin AE

    更新日期：2021-01-29 00:00:00

  • Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

    abstract：:The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 ge...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.002

    authors： Quélin C,Loget P,Verloes A,Bazin A,Bessières B,Laquerrière A,Patrier S,Grigorescu R,Encha-Razavi F,Delahaye S,Jouannic JM,Carbonne B,D'Hervé D,Aubry MC,Macé G,Harvey T,Ville Y,Viot G,Joyé N,Odent S,Attié-Bitach T

    更新日期：2012-02-01 00:00:00

  • Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.

    abstract：:Hereditary spastic paraplegia (HSP) represents a large group of neurological disorders characterized by progressive spasticity of the lower limbs. One subtype of HSP shows an autosomal recessive form of inheritance with thin corpus callosum (ARHSP-TCC), and displays genetic heterogeneity with four known loci. We ident...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.10.006

    authors： Abdel Aleem A,Abu-Shahba N,Swistun D,Silhavy J,Bielas SL,Sattar S,Gleeson JG,Zaki MS

    更新日期：2011-01-01 00:00:00

  • 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 co...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.06.003

    authors： Shrimpton AE,Hoo JJ

    更新日期：2006-03-01 00:00:00

  • Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

    abstract：:Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adul...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.07.008

    authors： Takano K,Goto K,Motobayashi M,Wakui K,Kawamura R,Yamaguchi T,Fukushima Y,Kosho T

    更新日期：2017-10-01 00:00:00

  • A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

    abstract：:We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndrom...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.09.002

    authors： Cobben JM,Weiss MM,van Dijk FS,De Reuver R,de Kruiff C,Pondaag W,Hennekam RC,Yntema HG

    更新日期：2014-11-01 00:00:00