Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.

ABSTRACT:

Background

Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT and vPOC1A syndrome include dyslipidemia with insulin resistance and acanthosis nigricans. To our knowledge, this is the first report of a SOFT syndrome patient diagnosed with a homozygous splicing variant, which could help to extend our understanding of the genotypic and phenotypic information of the disease.

Case presentation

We reported a seven-year-old boy with SOFT syndrome. The patient presented symmetrical short stature and facial features, including prominent forehead, inverted trian

SUBMITTER: Li G 

PROVIDER: S-EPMC8379828 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature