MECP2 mutation in male patients with non-specific X-linked mental retardation.

Abstract:

:In contrast to the preponderance of affected males in families with X-linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linked gene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

Orrico A,Lam C,Galli L,Dotti MT,Hayek G,Tong SF,Poon PM,Zappella M,Federico A,Sorrentino V

doi

10.1016/s0014-5793(00)01994-3

keywords:

subject

Has Abstract

pub_date

2000-09-22 00:00:00

pages

285-8

issue

3

eissn

0014-5793

issn

1873-3468

pii

S0014579300019943

journal_volume

481

pub_type

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