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.
|
Authors | Birgitta Winnepenninckx, Vanessa Errijgers, Edwin Reyniers, Peter P De Deyn, Fatima E Abidi, Charles E Schwartz, R Frank Kooy |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 112
Issue 1
Pg. 17-22
(Sep 15 2002)
ISSN: 0148-7299 [Print] United States |
PMID | 12239714
(Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)
|
Copyright | Copyright 2002 Wiley-Liss, Inc. |
Chemical References |
|
Topics |
- Base Sequence
- Chromosomes, Human, X
- DNA Primers
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- Intellectual Disability
(genetics)
- Male
- Pedigree
|