Literature DB >> 17845870

Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

Björn Menten1, Karen Buysse, Stefan Vermeulen, Valerie Meersschaut, Jo Vandesompele, Bee L Ng, Nigel P Carter, Geert R Mortier, Frank Speleman.   

Abstract

We report on a patient with mental retardation, seizures and tall stature with advanced bone age in whom a de novo apparently balanced chromosomal rearrangement 46,XX,t(X;9)(q12;p13.3) was identified. Using array CGH on flow-sorted derivative chromosomes (array painting) and subsequent FISH and qPCR analysis, we mapped and sequenced both breakpoints. The Xq12 breakpoint was located within the gene coding for oligophrenin 1 (OPHN1) whereas the 9p13.3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband.

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Year:  2007        PMID： 17845870      PMCID： PMC2688819          DOI： 10.1016/j.ejmg.2007.07.003

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  21 in total

1.  Elimination of primer-dimer artifacts and genomic coamplification using a two-step SYBR green I real-time RT-PCR.

Authors:  Jo Vandesompele; Anne De Paepe; Frank Speleman
Journal:  Anal Biochem       Date:  2002-04-01       Impact factor: 3.365

2.  Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays.

Authors:  H Fiegler; S M Gribble; D C Burford; P Carr; E Prigmore; K M Porter; S Clegg; J A Crolla; N R Dennis; P Jacobs; N P Carter
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318

3.  The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis.

Authors:  Eve-Ellen Govek; Sarah E Newey; Colin J Akerman; Justin R Cross; Lieven Van der Veken; Linda Van Aelst
Journal:  Nat Neurosci       Date:  2004-03-14       Impact factor: 24.884

4.  A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Authors:  Tristan W McMullan; John A Crolla; Simon G Gregory; Nigel P Carter; Rachel A Cooper; Gareth R Howell; David O Robinson
Journal:  Hum Genet       Date:  2002-02-01       Impact factor: 4.132

5.  The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain.

Authors:  Fabien Fauchereau; Ulrike Herbrand; Philippe Chafey; Alexander Eberth; Annette Koulakoff; Marie-Claude Vinet; Mohammad Reza Ahmadian; Jamel Chelly; Pierre Billuart
Journal:  Mol Cell Neurosci       Date:  2003-08       Impact factor: 4.314

6.  Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

Authors:  Vincent des Portes; Nathalie Boddaert; Silvia Sacco; Sylvain Briault; Kim Maincent; Nadia Bahi; Marie Gomot; Nathalie Ronce; Joseph Bursztyn; Catherine Adamsbaum; Monica Zilbovicius; Jamel Chelly; Claude Moraine
Journal:  Am J Med Genet A       Date:  2004-02-01       Impact factor: 2.802

7.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

8.  Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Authors:  N Philip; B Chabrol; A-M Lossi; C Cardoso; R Guerrini; W B Dobyns; C Raybaud; L Villard
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

Review 9.  Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Authors:  Carsten Bergmann; Klaus Zerres; Jan Senderek; Sabine Rudnik-Schoneborn; Thomas Eggermann; Martin Häusler; Michael Mull; Vincent T Ramaekers
Journal:  Brain       Date:  2003-05-21       Impact factor: 13.501

10.  Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Authors:  G Zanni; Y Saillour; M Nagara; P Billuart; L Castelnau; C Moraine; L Faivre; E Bertini; A Durr; A Guichet; D Rodriguez; V des Portes; C Beldjord; J Chelly
Journal:  Neurology       Date:  2005-10-12       Impact factor: 9.910
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  4 in total

1.  A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

Authors:  Cíntia Barros Santos-Rebouças; Stefanie Belet; Luciana Guedes de Almeida; Márcia Gonçalves Ribeiro; Enrique Medina-Acosta; Paulo Roberto Valle Bahia; Antônio Francisco Alves da Silva; Flávia Lima dos Santos; Glenda Corrêa Borges de Lacerda; Márcia Mattos Gonçalves Pimentel; Guy Froyen
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

Review 2.  X-linked disorders with cerebellar dysgenesis.

Authors:  Ginevra Zanni; Enrico S Bertini
Journal:  Orphanet J Rare Dis       Date:  2011-05-15       Impact factor: 4.123

3.  Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.

Authors:  Hsiao-Mei Liao; Jye-Siung Fang; Yann-Jang Chen; Kuang-Lun Wu; Kuei-Fang Lee; Chia-Hsiang Chen
Journal:  BMC Med Genet       Date:  2011-05-20       Impact factor: 2.103

4.  Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report.

Authors:  Alina Bogliş; Adriana S Cosma; Florin Tripon; Claudia Bãnescu
Journal:  Medicine (Baltimore)       Date:  2020-08-14       Impact factor: 1.817
  4 in total

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