Cohen syndrome in two patients from China.

ABSTRACT:

Background

Cohen syndrome (CS; OMIM 216550) is a rare syndrome with evident clinical heterogeneity. The diverse phenotype comprises early-onset hypotonia and developmental delays, intellectual disabilities, microcephaly, hypermobile joints, neutropenia, myopia, and characteristic facial features. The disease is rarely reported. Vacuolar Protein Sorting 13 Homolog B (VPS13B; OMIM 607817) is the only causative gene of CS.

Methods

Blood samples sourced from both siblings and parents were sent to identify mutations by trio-WES, and changes in the patient's condition were understood through consultation data and follow-up.

Results

We reported two siblings affected by developmental delay, microcephaly, intellectual disability, and facial features. The siblings' WES detected

SUBMITTER: Gong J 

PROVIDER: S-EPMC9747547 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature