Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.

ABSTRACT:

Background

Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant inheritable disorder caused by CREBBP and EP300 mutations, while atypical RSTS harbouring variant from the same genes but not obvious resembling RSTS. There are only a few cases of Menke-Hennekam syndrome (MKHK) with variant of exon 30 or 31 of CREBBP or EP300 gene have been reported that not resembling RSTS recent years. Atypical RSTS cannot be accurately classified as MKHK, nor is it easy to identify the obvious classic characteristics of RSTS. The clinical manifestations and genetic variation of atypical RSTS are not fully understood.

Case presentation

We present a Chinese core family with a girl had recurrent respiratory tract infection and developmental delay. The patient with language a

SUBMITTER: Bai Z 

PROVIDER: S-EPMC9933371 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature