Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

ABSTRACT:

Context

A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). All TUBB3 E410K subjects reported to date are sporadic cases.

Objective

This study aimed to report the clinical, genetic, and molecular features of a familial presentation of the TUBB3 E410K syndrome.

Design

Case report of a mother and three affected children with clinical features of the TUBB3 E410K syndrome.

Setting

Academic Medical Center.

Main outcome measures

Genetic analysis of the TUBB3 gene

SUBMITTER: Balasubramanian R 

PROVIDER: S-EPMC4333039 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature