当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

Abstract：

:The increasing use of whole-genome array screening has revealed the important role of DNA copy-number variations in the pathogenesis of neurodevelopmental disorders and several recurrent genomic disorders have been defined during recent years. However, some variants considered to be pathogenic have also been observed in phenotypically normal individuals. This underlines the importance of further characterization of genomic variants with potentially variable expressivity in both patient and general population cohorts to clarify their phenotypic consequence. In this study whole-genome SNP arrays were used to investigate genomic rearrangements in 77 Estonian families with idiopathic mental retardation. In addition to this family-based approach, phenotype and genotype data from a cohort of 1000 individuals in the general population were used for accurate interpretation of aberrations found in mental retardation patients. Relevant structural aberrations were detected in 18 of the families analyzed (23%). Fifteen of those were in genomic regions where clinical significance has previously been established. In 3 families, 4 novel aberrations associated with intellectual disability were detected in chromosome regions 2p25.1-p24.3, 3p12.1-p11.2, 7p21.2-p21.1 and Xq28. Carriers of imbalances in 15q13.3, 16p11.2 and Xp22.31 were identified among reference individuals, affirming the variable phenotypic consequence of rare variants in some genomic regions considered as pathogenic.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Männik K,Parkel S,Palta P,Zilina O,Puusepp H,Esko T,Mägi R,Nõukas M,Veidenberg A,Nelis M,Metspalu A,Remm M,Ounap K,Kurg A

doi

10.1016/j.ejmg.2010.11.005

subject

Has Abstract

pub_date

2011-03-01 00:00:00

pages

136-43

issue

2

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00137-0

journal_volume

54

pub_type

杂志文章

相关文献

European Journal of Medical Genetics文献大全
  • Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

    abstract：:We identified a 495 Kb interstitial deletion of chromosome Xp22.2, centered on the AP1S2 gene, by means of oligonucleotide array comparative genomic hybridisation (array-CGH) in a child with marked hypotonia in the first months of life, psychomotor retardation, severely delayed walking and speech development, and unsp...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.12.001

    authors： Ballarati L,Cereda A,Caselli R,Maitz S,Russo S,Selicorni A,Larizza L,Giardino D

    更新日期：2012-02-01 00:00:00

  • A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

    abstract：:SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of thre...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103738

    authors： Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MA

    更新日期：2020-03-01 00:00:00

  • The prevalence of major congenital malformations during two periods of time, 1986-1994 and 1995-2002 in newborns conceived by assisted reproduction technology.

    abstract：:Evidence has emerged that assisted reproduction technology (ART) may be associated with an increased risk of congenital malformations, low birth weight, and genetic imprinting disorders. The aim of the study was to determine, the prevalence of major malformations in newborns conceived by standard in vitro fertilizatio...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.019

    authors： Merlob P,Sapir O,Sulkes J,Fisch B

    更新日期：2005-01-01 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

  • Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

    abstract：:Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.06.003

    authors： Gijsbers AC,Bosch CA,Dauwerse JG,Giromus O,Hansson K,Hilhorst-Hofstee Y,Kriek M,van Haeringen A,Bijlsma EK,Bakker E,Breuning MH,Ruivenkamp CA

    更新日期：2010-09-01 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

  • 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

  • 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

  • Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

    abstract：:The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.02.003

    authors： Kharbanda M,Hunter A,Tennant S,Moore D,Curtis S,Hancox JC,Murday V

    更新日期：2017-05-01 00:00:00

  • Severe skeletal dysplasia caused by undiagnosed hypothyroidism.

    abstract：:Due to increased awareness of early clinical signs and introduction of neonatal screening for congenital hypothyroidism, long-term untreated hypothyroidism has become rare. Nevertheless, neonatal screening for congenital hypothyroidism is not performed in all countries, and not every affected patient might be picked u...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2007.02.002

    authors： Hüffmeier U,Tietze HU,Rauch A

    更新日期：2007-05-01 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

  • 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

    abstract：:Here we report three patients affected with neurodevelopmental disorders and harbouring 21q21 deletions involving NCAM2 gene. NCAM (Neural Cell Adhesion Molecule) proteins are involved in axonal migration, synaptic formation and plasticity. Poor axonal growth and fasciculation is observed in animal models deficient fo...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.11.004

    authors： Petit F,Plessis G,Decamp M,Cuisset JM,Blyth M,Pendlebury M,Andrieux J

    更新日期：2015-01-01 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

  • 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 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

  • Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.

    abstract：:Alexander disease (AxD), a fatal degenerative leukoencephalopathy, is caused by de novo heterozygous missense mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. The pathological hallmark of the disease is the presence of Rosenthal fibers, cytoplasmic inclusions in astrocytes, composed mainly of GFAP, αB-cry...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.07.002

    authors： Ferreira MC,Dorboz I,Rodriguez D,Boespflug Tanguy O

    更新日期：2015-09-01 00:00:00

  • Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

    abstract：:Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillbor...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.07.005

    authors： Coulibaly B,Sigaudy S,Girard N,Popovici C,Missirian C,Heckenroth H,Tasei AM,Fernandez C

    更新日期：2010-09-01 00:00:00

  • Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

    abstract：:Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epile...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103970

    authors： Gupta S,Schwab M,Valdez-Gonzalez K,Segal E

    更新日期：2020-09-01 00:00:00

  • 4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

    abstract：:Axenfeld-Rieger syndrome (ARS) is a heterogeneous clinical entity transmitted in an autosomal dominant manner. The main feature, Axenfeld-Rieger Anomaly (ARA), is a malformation of the anterior segment of the eye that can lead to glaucoma and impair vision. Extra-ocular defects have also been reported. Point mutations...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.10.018

    authors： Vande Perre P,Zazo Seco C,Patat O,Bouneau L,Vigouroux A,Bourgeois D,El Hout S,Chassaing N,Calvas P

    更新日期：2018-02-01 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

  • Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review.

    abstract：:Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2013.01.010

    authors： Su MT,Liang YL,Chen JC,Sun HS,Chang FM,Kuo PL

    更新日期：2013-04-01 00:00:00

  • Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

    abstract：:Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no si...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2013.10.007

    authors： Smigiel R,Marcelis C,Patkowski D,de Leeuw N,Bednarczyk D,Barg E,Mascianica K,Maria Sasiadek M,Brunner H

    更新日期：2014-01-01 00:00:00

  • Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.

    abstract：:Male to female sex reversal in patients with 46,XY karyotype results from the failure of development of testis which may be due to mutations in the SRY gene. Only 10-15% of cases of 46,XY gonadal dysgenesis are accounted for by different types of mutations in the SRY gene. Hence, majority of such patients may have mut...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.04.010

    authors： Das DK,Sanghavi D,Gawde H,Idicula-Thomas S,Vasudevan L

    更新日期：2011-11-01 00:00:00

  • The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.

    abstract：:Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders that are characterized by progressive skeletal muscle weakness and dystrophic changes on muscle biopsy. The broad genetic and clinical heterogeneity of MDs make the accurate diagnosis difficult via conventional approaches. This study investiga...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2020.103845

    authors： Dardas Z,Swedan S,Al-Sheikh Qassem A,Azab B

    更新日期：2020-04-01 00:00:00

  • A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12.

    abstract：:A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.08.001

    authors： Bartsch O,Schindler D,Beyer V,Gesk S,van't Slot R,Feddersen I,Buijs A,Jaspers NG,Siebert R,Haaf T,Poot M

    更新日期：2012-01-01 00:00:00

  • Current perspectives on the etiology of agnathia-otocephaly.

    abstract：:Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal mig...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2010.09.002

    authors： Gekas J,Li B,Kamnasaran D

    更新日期：2010-11-01 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

  • 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

  • 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

  • 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