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

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.
AuthorsBirgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, Peter P De Deyn, Fatima E Abidi, Charles E Schwartz, R Frank Kooy
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 112 Issue 1 Pg. 17-22 (Sep 15 2002) ISSN: 0148-7299 [Print] United States
PMID12239714 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
CopyrightCopyright 2002 Wiley-Liss, Inc.
Chemical References
  • DNA Primers
Topics
  • Base Sequence
  • Chromosomes, Human, X
  • DNA Primers
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage
  • Humans
  • Intellectual Disability (genetics)
  • Male
  • Pedigree

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