Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.

ABSTRACT:

Background

The present study aims to summarize the clinical and genetic characteristics of ZTTK syndrome.

Methods

The clinical and genetic data of a Chinese girl with severe growth and development delay, intellectual disability, and facial features were analyzed. Original articles on ZTTK syndrome published up to November 20l8 were identified from PubMed, Human Gene Mutation Database, Online Mendelian Inheritance in Man, China National Knowledge Infrastructure, and WanFang databases using the keywords "ZTTK syndrome" and "SON".

Results

The patient was born small for gestational age, and had poor academic performance, delayed language development, and motor retardation. The patient's height was 113 cm (less than -3 SD), and had moles on the back skin and possessed faci

SUBMITTER: Yang Y 

PROVIDER: S-EPMC6825855 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature