Literature DB >> 16078051

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

K Poirier1, J Abriol, I Souville, C Laroche-Raynaud, C Beldjord, B Gilbert, J Chelly, T Bienvenu.   

Abstract

We describe two brothers with mental retardation (MR) due to a c.428_451dup24 in the ARX gene. The mother did not apparently carry the mutation, as determined by dHPLC and by fragment size analysis. Using semiquantitative fluorescent PCR, we show however that 4% of her lymphocytes and 24% of her fibroblasts harbored the duplication. We thus show that the mother displays somatic mosaicism for the duplication thereby highlighting the need to reconsider the molecular screening in sporadic cases of MR.

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Year:  2005        PMID： 16078051     DOI： 10.1007/s00439-005-0011-2

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

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Authors:  Thierry Bienvenu; Karine Poirier; Gaelle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanne Frints; Josef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
Journal:  Hum Mol Genet       Date:  2002-04-15       Impact factor: 6.150

3.  Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate.

Authors:  H Miura; M Yanazawa; K Kato; K Kitamura
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4.  Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.

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Journal:  Nat Genet       Date:  2002-10-15       Impact factor: 38.330

7.  X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

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Authors:  Petter Strømme; Marie E Mangelsdorf; Ingrid E Scheffer; Jozef Gécz
Journal:  Brain Dev       Date:  2002-08       Impact factor: 1.961

9.  Screening of the ARX gene in 682 retarded males.

Authors:  Karen Grønskov; Helle Hjalgrim; Inge-Merete Nielsen; Karen Brøndum-Nielsen
Journal:  Eur J Hum Genet       Date:  2004-09       Impact factor: 4.246

10.  Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Authors:  Mitsuhiro Kato; Soma Das; Kristin Petras; Kunio Kitamura; Ken-Ichirou Morohashi; Diane N Abuelo; Mason Barr; Dominique Bonneau; Angela F Brady; Nancy J Carpenter; Karen L Cipero; Francesco Frisone; Takayuki Fukuda; Renzo Guerrini; Eri Iida; Masayuki Itoh; Amy Feldman Lewanda; Yukiko Nanba; Akira Oka; Virginia K Proud; Pascale Saugier-Veber; Susan L Schelley; Angelo Selicorni; Rachel Shaner; Margherita Silengo; Fiona Stewart; Noriyuki Sugiyama; Jun Toyama; Annick Toutain; Ana Lía Vargas; Masako Yanazawa; Elaine H Zackai; William B Dobyns
Journal:  Hum Mutat       Date:  2004-02       Impact factor: 4.878
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  7 in total

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Journal:  J Mol Med (Berl)       Date:  2011-02-19       Impact factor: 4.599

2.  Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Authors:  Cheryl Shoubridge; Alison Gardner; Charles E Schwartz; Anna Hackett; Michael Field; Jozef Gecz
Journal:  Eur J Hum Genet       Date:  2012-04-11       Impact factor: 4.246

3.  Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Authors:  Ofir T Betsalel; Jiddeke M van de Kamp; Cristina Martínez-Muñoz; Efraim H Rosenberg; Arjan P M de Brouwer; Petra J W Pouwels; Marjo S van der Knaap; Grazia M S Mancini; Cornelis Jakobs; Ben C J Hamel; Gajja S Salomons
Journal:  Neurogenetics       Date:  2008-03-19       Impact factor: 2.660

Review 4.  Molecular mechanisms underlying nucleotide repeat expansion disorders.

Authors:  Indranil Malik; Chase P Kelley; Eric T Wang; Peter K Todd
Journal:  Nat Rev Mol Cell Biol       Date:  2021-06-17       Impact factor: 113.915

5.  A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.

Authors:  Loredana Poeta; Francesca Fusco; Denise Drongitis; Cheryl Shoubridge; Genesia Manganelli; Stefania Filosa; Mariateresa Paciolla; Monica Courtney; Patrick Collombat; Maria Brigida Lioi; Jozef Gecz; Matilde Valeria Ursini; Maria Giuseppina Miano
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

6.  Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Authors:  Cecelia R Miller; Kristy Lee; Ruthann B Pfau; Shalini C Reshmi; Donald J Corsmeier; Sayaka Hashimoto; Ashita Dave-Wala; Vijayakumar Jayaraman; Daniel Koboldt; Theodora Matthews; Danielle Mouhlas; Maggie Stein; Aimee McKinney; Tom Grossman; Benjamin J Kelly; Peter White; Vincent Magrini; Richard K Wilson; Elaine R Mardis; Catherine E Cottrell
Journal:  Cold Spring Harb Mol Case Stud       Date:  2020-06-12

7.  MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Authors:  Carmela Laperuta; Letizia Spizzichino; Pio D'Adamo; Jlenia Monfregola; Antonio Maiorino; Angela D'Eustacchio; Valerio Ventruto; Giovanni Neri; Michele D'Urso; Pietro Chiurazzi; Matilde Valeria Ursini; Maria Giuseppina Miano
Journal:  BMC Med Genet       Date:  2007-05-04       Impact factor: 2.103
  7 in total

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