Literature DB >> 7943042

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

G Turner1, A Gedeon, J Mulley.   

Abstract

A family is described with X-linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2-point lod score of 3.31 (theta = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697-705).

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Year:  1994        PMID： 7943042     DOI： 10.1002/ajmg.1320510456

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  11 in total

1.  Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

Authors:  Michael Field; Patrick S Tarpey; Raffaella Smith; Sarah Edkins; Sarah O'Meara; Claire Stevens; Calli Tofts; Jon Teague; Adam Butler; Ed Dicks; Syd Barthorpe; Gemma Buck; Jennifer Cole; Kristian Gray; Kelly Halliday; Katy Hills; Andrew Jenkinson; David Jones; Andrew Menzies; Tatiana Mironenko; Janet Perry; Keiran Raine; David Richardson; Rebecca Shepherd; Alexandra Small; Jennifer Varian; Sofie West; Sara Widaa; Uma Mallya; Richard Wooster; Jenny Moon; Ying Luo; Helen Hughes; Marie Shaw; Kathryn L Friend; Mark Corbett; Gillian Turner; Michael Partington; John Mulley; Martin Bobrow; Charles Schwartz; Roger Stevenson; Jozef Gecz; Michael R Stratton; P Andrew Futreal; F Lucy Raymond
Journal:  Am J Hum Genet       Date:  2007-06-26       Impact factor: 11.025

2.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Authors:  Amélie Piton; Claire Redin; Jean-Louis Mandel
Journal:  Am J Hum Genet       Date:  2013-07-18       Impact factor: 11.025

3.  HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Authors:  Stéphanie Moortgat; Siren Berland; Ingvild Aukrust; Isabelle Maystadt; Laura Baker; Valerie Benoit; Alfonso Caro-Llopis; Nicola S Cooper; François-Guillaume Debray; Laurence Faivre; Thatjana Gardeitchik; Bjørn I Haukanes; Gunnar Houge; Emma Kivuva; Francisco Martinez; Sarju G Mehta; Marie-Cécile Nassogne; Nina Powell-Hamilton; Rolph Pfundt; Monica Rosello; Trine Prescott; Pradeep Vasudevan; Barbara van Loon; Christine Verellen-Dumoulin; Alain Verloes; Charlotte von der Lippe; Emma Wakeling; Andrew O M Wilkie; Louise Wilson; Amy Yuen; Ddd Study; Karen J Low; Ruth A Newbury-Ecob
Journal:  Eur J Hum Genet       Date:  2017-11-27       Impact factor: 4.246

4.  A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

Authors:  J P Johnson; R Nelson; C E Schwartz
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

5.  Quantitative Lys-ϵ-Gly-Gly (diGly) proteomics coupled with inducible RNAi reveals ubiquitin-mediated proteolysis of DNA damage-inducible transcript 4 (DDIT4) by the E3 ligase HUWE1.

Authors:  Joel W Thompson; Jane Nagel; Sjouke Hoving; Bertran Gerrits; Andreas Bauer; Jason R Thomas; Marc W Kirschner; Markus Schirle; Sarah J Luchansky
Journal:  J Biol Chem       Date:  2014-08-21       Impact factor: 5.157

Review 6.  X-linked intellectual disability update 2017.

Authors:  Giovanni Neri; Charles E Schwartz; Herbert A Lubs; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2018-04-25       Impact factor: 2.802

7.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Authors:  Guy Froyen; Mark Corbett; Joke Vandewalle; Irma Jarvela; Owen Lawrence; Cliff Meldrum; Marijke Bauters; Karen Govaerts; Lucianne Vandeleur; Hilde Van Esch; Jamel Chelly; Damien Sanlaville; Hans van Bokhoven; Hans-Hilger Ropers; Frederic Laumonnier; Enzo Ranieri; Charles E Schwartz; Fatima Abidi; Patrick S Tarpey; P Andrew Futreal; Annabel Whibley; F Lucy Raymond; Michael R Stratton; Jean-Pierre Fryns; Rodney Scott; Maarit Peippo; Marjatta Sipponen; Michael Partington; David Mowat; Michael Field; Anna Hackett; Peter Marynen; Gillian Turner; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

Review 8.  DNA damage tolerance in stem cells, ageing, mutagenesis, disease and cancer therapy.

Authors:  Bas Pilzecker; Olimpia Alessandra Buoninfante; Heinz Jacobs
Journal:  Nucleic Acids Res       Date:  2019-08-22       Impact factor: 16.971

9.  Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

Authors:  Babylakshmi Muthusamy; Thong T Nguyen; Aravind K Bandari; Salah Basheer; Lakshmi Dhevi N Selvan; Deepshikha Chandel; Jesna Manoj; Srimonta Gayen; Somasekar Seshagiri; Satish Chandra Girimaji; Akhilesh Pandey
Journal:  Eur J Med Genet       Date:  2019-02-21       Impact factor: 2.708

10.  HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

Authors:  Michael J Friez; Susan Sklower Brooks; Roger E Stevenson; Michael Field; Monica J Basehore; Lesley C Adès; Courtney Sebold; Stephen McGee; Samantha Saxon; Cindy Skinner; Maria E Craig; Lucy Murray; Richard J Simensen; Ying Yzu Yap; Marie A Shaw; Alison Gardner; Mark Corbett; Raman Kumar; Matthias Bosshard; Barbara van Loon; Patrick S Tarpey; Fatima Abidi; Jozef Gecz; Charles E Schwartz
Journal:  BMJ Open       Date:  2016-04-29       Impact factor: 2.692
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