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.

Orrico, A., Lam, C., Galli, L., Dotti, M.T., Hayek, G., Tong, S.F., et al. (2000). MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS LETTERS, 481(3), 285-288 [10.1016/S0014-5793(00)01994-3].

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

Orrico, A.;Galli, L.;Dotti, M. T.;Federico, A.;Sorrentino, V.
2000-01-01

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.
2000
Orrico, A., Lam, C., Galli, L., Dotti, M.T., Hayek, G., Tong, S.F., et al. (2000). MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS LETTERS, 481(3), 285-288 [10.1016/S0014-5793(00)01994-3].
File in questo prodotto:
File Dimensione Formato  
Orrico_.pdf

non disponibili

Tipologia: Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 143.31 kB
Formato Adobe PDF
143.31 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/20775
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo