Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

ABSTRACT:

Background

The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations.

Methods

We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports.

Results

A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair, ptosis, sagging skin, and hyperkeratosis) and premature aging. Trio whole exome sequencing (WES) revealed a

SUBMITTER: Zhao J 

PROVIDER: S-EPMC8922969 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature