Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

ABSTRACT:

Background

Intellectual developmental disorder with dysmorphic facial features, seizures, and distal limb anomalies (IDDFSDA, MIM: #617452) is a rare autosomal recessive genetic disorder. There have been < 30 reported cases globally without fundus and retinal lesions.

Methods

Pathogenic gene variants were identified using whole exome trio sequencing (trioWES) and confirmed using Sanger sequencing. The literature on PubMed and Google Scholar was reviewed using the keyword "OTUD6B" to summarize and compare clinical phenotypes and OTUD6B variants in reported cases.

Case presentation

A 6-month-old girl presented with nystagmus and hypothyroidism. On admission, optic disc hypoplasia and retinal abnormalities were detected with a typical phenotype of IDDFSDA. TrioWES was us

SUBMITTER: Chen J 

PROVIDER: S-EPMC12584513 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature