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

FEBS Letters

Poon, Priscilla M.K.⁴  Federico, Antonio²  Sorrentino, Vincenzo³  Zappella, Michele¹  Galli, Lucia³  Orrico, Alfredo³  Dotti, Maria Teresa²  Lam, Ching-Wan⁴  Tong, Sui-Fan⁴  Hayek, Giuseppe¹ 

[1] Department of Child Neuropsychiatry, Policlinico Le Scotte, Siena, Italy;Institute of Neurometabolic Disease, University of Siena, Siena, Italy;Medical Genetics, Policlinico Le Scotte, Siena, Italy;Department of Chemical Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, PR China

关键词: X-linked mental retardation;    MECP2 gene;    Missense mutation;    Development;   

DOI  :  10.1016/S0014-5793(00)01994-3

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown