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 Lettjournal_title
FEBS lettersauthors
Orrico A,Lam C,Galli L,Dotti MT,Hayek G,Tong SF,Poon PM,Zappella M,Federico A,Sorrentino Vdoi
10.1016/s0014-5793(00)01994-3keywords:
subject
Has Abstractpub_date
2000-09-22 00:00:00pages
285-8issue
3eissn
0014-5793issn
1873-3468pii
S0014579300019943journal_volume
481pub_type
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