A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

作者：Tokaji Narumi; Ito Hiromichi; Kohmoto Tomohiro; Naruto Takuya; Takahashi Rizu; Goji Aya; Mori Tatsuo; Toda Yoshihiro; Saito Masako; Tange Shoichiro; Masuda Kiyoshi; Kagami Shoji; Imoto Issei^*

来源：American Journal of Medical Genetics, Part A, 2018, 176(3): 699-702.

DOI：10.1002/ajmg.a.38595

• classic Rett syndrome
• exon 1
• MECP2
• MeCP2_e1
• mutation

Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported. This is the first reported case of a male with classic RTT caused by a 5-bp duplication in the open-reading frame of MECP2 exon 1 (NM_001110792.1:c.23_27dup) that introduced a premature stop codon [p.(Ser10Argfs*36)] in the MeCP2_e1 isoform, which has been reported in one female patient with classic RTT. Therefore, both males and females displaying at least some type of MeCP2_e1 mutation may exhibit the classic RTT phenotype.

• 出版日期2018-3