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MECP2 mutation in male patients with non‐specific X‐linked mental retardation
Author(s) -
Orrico Alfredo,
Lam Ching-Wan,
Galli Lucia,
Dotti Maria Teresa,
Hayek Giuseppe,
Tong Sui-Fan,
Poon Priscilla M.K.,
Zappella Michele,
Federico Antonio,
Sorrentino Vincenzo
Publication year - 2000
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(00)01994-3
Subject(s) - mecp2 , rett syndrome , mutation , genetics , intellectual disability , gene , daughter , x chromosome , biology , phenotype , evolutionary biology
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.