Literature DB >> 12239714

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Birgitta Winnepenninckx1, Vanessa Errijgers, Edwin Reyniers, Peter P De Deyn, Fatima E Abidi, Charles E Schwartz, R Frank Kooy.   

Abstract

Nonspecific X-linked mental retardation (MRX) patients are characterized by mental retardation, without additional distinguishing features. Consequently, MRX families can only be distinguished by mapping studies; yet, due to imprecise mapping studies performed in the past, the number of genes causing MRX is debatable, and a more precise localization for families is necessary to estimate this number. MRX 9 has been mapped to the pericentromeric region Xp21-q13. We refined the mapping of the MRX9 family to Xp11.22-Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12239714     DOI: 10.1002/ajmg.10663

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


  1 in total

1.  TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.

Authors:  Christiane Christophe-Hobertus; Frank Kooy; Jozef Gecz; Marc J Abramowicz; Elke Holinski-Feder; Charles Schwartz; Daniel Christophe
Journal:  BMC Med Genet       Date:  2004-09-02       Impact factor: 2.103

  1 in total

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