" /> Encephalopathy, neonatal severe, due to mecp2 mutations - CISMeF





Preferred Label : Encephalopathy, neonatal severe, due to mecp2 mutations;

Type : Phenotype, molecular basis known;

Description : The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Since then, additional reports have confirmed a severe phenotype in males with RTT-associated MECP2 mutations (Moog et al., 2003; Villard, 2007). Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes: see also nonspecific X-linked mental retardation, X-linked mental retardation with spasticity (300055), and X-linked mental retardation due to increased dosage of the MECP2 gene (300260).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0003);

Prefixed ID : #300673;

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07/07/2025


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