当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Abstract：

:Mutations in the oligophrenin 1 gene (OPHN1) have been identified in patients with X-linked intellectual disability (XLID) associated with cerebellar hypoplasia and ventriculomegaly, suggesting it could be a recognizable syndromic intellectual disability (ID). Affected individuals share additional clinical features including speech delay, seizures, strabismus, behavioral difficulties, and slight facial dysmorphism. OPHN1 is located in Xq12 and encodes a Rho-GTPase-activating protein involved in the regulation of the G-protein cycle. Rho protein members play an important role in dendritic growth and in plasticity of excitatory synapses. Here we report on 17 individuals from four unrelated families affected by mild to severe intellectual disability due to OPHN1 mutations without cerebellar anomaly on brain MRI. We describe clinical, genetic and neuroimaging data of affected patients. Among the identified OPHN1 mutations, we report for the first time a missense mutation occurring in a mosaic state. We discuss the intrafamilial clinical variability of the disease and compare our patients with those previously reported. We emphasize the power of next generation techniques (X-exome sequencing, whole-exome sequencing and targeted multi-gene panel) to expand the phenotypic and mutational spectrum of OPHN1-related ID.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Moortgat S,Lederer D,Deprez M,Buzatu M,Clapuyt P,Boulanger S,Benoit V,Mary S,Guichet A,Ziegler A,Colin E,Bonneau D,Maystadt I

doi

10.1016/j.ejmg.2018.03.002

subject

Has Abstract

pub_date

2018-08-01 00:00:00

pages

442-450

issue

8

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(17)30666-3

journal_volume

61

pub_type

杂志文章,评审

相关文献

European Journal of Medical Genetics文献大全
  • De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

    abstract：:We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2015.04.002

    authors： Pajusalu S,Reimand T,Uibo O,Vasar M,Talvik I,Zilina O,Tammur P,Õunap K

    更新日期：2015-06-01 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

  • In silico prediction of the effects of mutations in the human triose phosphate isomerase gene: Towards a predictive framework for TPI deficiency.

    abstract：:Triose phosphate isomerase (TPI) deficiency is a rare, but highly debilitating, inherited metabolic disease. Almost all patients suffer severe neurological effects and the most severely affected are unlikely to live beyond early childhood. Here, we describe an in silico study into well-characterised variants which are...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2017.03.008

    authors： Oliver C,Timson DJ

    更新日期：2017-06-01 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

  • 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

  • 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

  • A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

    abstract：:The 17q21.31 microdeletion syndrome is a genetic disorder characterized by intellectual disability, facial dysmorphisms and a typical behavioral phenotype. Patients are usually described as friendly and cooperative but they can also show behavioral problems such as hyperactivity, bad humor, temper tantrums and poor in...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.04.010

    authors： Terrone G,D'Amico A,Imperati F,Carella M,Palumbo O,Gentile M,Canani RB,Melis D,Romano A,Parente I,Riccitelli M,Del Giudice E

    更新日期：2012-08-01 00:00:00

  • Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

    abstract：:Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, although familial aggregation is also observed with differen...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2013.08.004

    authors： Castori M,Valiante M,Pascolini G,Leuzzi V,Pizzuti A,Grammatico P

    更新日期：2013-10-01 00:00:00

  • 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 ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2010.11.005

    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

    更新日期：2011-03-01 00:00:00

  • Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.

    abstract：:The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Phase I: Cognitive interviews were used to explore interpreta...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2018.11.015

    authors： Grant PE,Pampaka M,Payne K,Clarke A,McAllister M

    更新日期：2019-05-01 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

  • Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

    abstract：:Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there ar...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.010

    authors： Das Bhowmik A,Rangaswamaiah S,Srinivas G,Dalal AB

    更新日期：2015-03-01 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

  • Ipsilateral foot and contralateral hand anomalies in a patient with Poland-Moebius syndrome.

    abstract：:This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndro...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.022

    authors： Cetin II,Aktaş D,Tunçbilek E

    更新日期：2005-04-01 00:00:00

  • SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

    abstract：:Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and ...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2014.12.005

    authors： Mauri L,Franzoni A,Scarcello M,Sala S,Garavelli L,Modugno A,Grammatico P,Patrosso MC,Piozzi E,Del Longo A,Gesu GP,Manfredini E,Primignani P,Damante G,Penco S

    更新日期：2015-02-01 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

  • Ring chromosome 12 with inverted microduplication of 12p13.3 involving the Von Willebrand Factor gene associated with cryptogenic stroke in a young adult male.

    abstract：:We report a 35-year-old male with a ring chromosome 12 originally diagnosed 20 years prior to presentation with an ischemic stroke. Array CGH analysis revealed a sub-microscopic microdeletion and microduplication within 12p13.3 and a microdeletion in 12q24.33. FISH analysis further revealed that the duplication was in...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2010.09.014

    authors： Nik-Zainal S,Cotter PE,Willatt LR,Abbott K,O'Brien EW

    更新日期：2011-01-01 00:00:00

  • Phenotypic variability in two patients with tumor necrosis factor receptor associated periodic fever syndrome emphasizes a rare manifestation: Immunoglobulin A nephropathy.

    abstract：:Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. In this report, we described two patients with different heterozygote mutations in TNFRSF1A. Patient 1, a 15-year-old male, had suffered from recur...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2019.103780

    authors： Balci S,Kisla Ekinci RM,Melek E,Atmis B,Bisgin A,Yilmaz M

    更新日期：2020-04-01 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 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

  • Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

    abstract：:In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased ri...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章,评审

    doi：10.1016/j.ejmg.2016.01.006

    authors： Harrison CJ,Schwab C

    更新日期：2016-03-01 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

  • Humanity and human DNA.

    abstract：:Genetics has marked the second half of the 20th century by addressing such formidable problems as the identification of our genes and their role, their interaction with the environment, and even their therapeutic uses. The identification of genes raises questions about differences between humans and non-humans, as wel...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2012.05.007

    authors： Mattei JF

    更新日期：2012-10-01 00:00:00

  • Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

    abstract：INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. METHODS AND RESULTS:Conve...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2011.06.006

    authors： Høyer H,Braathen GJ,Eek AK,Skjelbred CF,Russell MB

    更新日期：2011-11-01 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

  • 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 case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

    abstract：:CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unu...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2016.02.012

    authors： Wells C,Loundon N,Garabedian N,Wiener-Vacher S,Cordier-Bouvier MD,Goudeffroye G,Attié-Bitach T,Marlin S

    更新日期：2016-04-01 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

  • A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

    abstract：:We report a 21-year-old patient with speech problems, autistic traits, dysmorphic facial features, broad thumbs with short distal phalanges and a pancreatic gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 11q13.1. The deleted region contains several genes which likely contribute to the pati...

    journal_title：European journal of medical genetics

    pub_type： 信件

    doi：10.1016/j.ejmg.2011.04.006

    authors： Mohrmann I,Gillessen-Kaesbach G,Siebert R,Caliebe A,Hellenbroich Y

    更新日期：2011-07-01 00:00:00

  • No mutations detected in the INSR gene in a chromosome 19p13 linked migraine pedigree.

    abstract：:The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic c...

    journal_title：European journal of medical genetics

    pub_type： 杂志文章

    doi：10.1016/j.ejmg.2005.01.015

    authors： Curtain R,Tajouri L,Lea R,MacMillan J,Griffiths L

    更新日期：2006-01-01 00:00:00