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

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

Am J Med Genet

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Published: September 2002

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.

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http://dx.doi.org/10.1002/ajmg.10663DOI Listing

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