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A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

Abstract：

:We report here the genetic cause of the X-linked syndrome of psychosis, pyramidal signs, and macro-orchidism (PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females in the family. To date, descriptions have been published of two patients with independent familial mental retardation (MR) and two patients with sporadic MR who harbor this specific mutation in the MECP2 gene. This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males. A simple and reliable PCR approach has been developed for detection of the hot spot A140V mutation to prescreen any other unexplained cases of MR before further extensive mutation analyses.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Klauck SM,Lindsay S,Beyer KS,Splitt M,Burn J,Poustka A

doi

10.1086/339553

subject

Has Abstract

pub_date

2002-04-01 00:00:00

pages

1034-7

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)60312-7

journal_volume

70

pub_type

杂志文章

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