Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

ABSTRACT:

Objective

Analyze the clinical and genetic characteristics of a rare Chinese family with Multiple synostoses syndrome and identify the causative variant with the high-throughput sequencing approach.

Methods

The medical history investigation, physical examination, imaging examination, and audiological examination of the family members were performed. DNA samples were extracted from the family members. The candidate variant was identified by performing whole-exome sequencing of the proband, then verified by Sanger sequencing in the family.

Results

The family named HBSY-018 from Hubei province had 18 subjects in three generations, and six subjects were diagnosed with conductive or mixed hearing loss. Meanwhile, characteristic features including short philtrum, hemicylind

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC9034678 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature