Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

ABSTRACT:

Background

Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by mutations in HRAS. Previous studies reported that approximately 80% of patients with CS share the same pathogenic variant in HRAS gene in c.34G> A (p.G12S). Here, we report a CS patient with c.34G> A (p.G12D) variant in HRAS gene and she presented with special manifestation.

Methods and results

We describe a 31-year-old female patient who presented with distinctive facial appearance, intellectual disability, dental abnormalities, hyperkeratosis of palmer and planter, loose skin at birth, papillomata on the face and nipples. The whole-exome sequencing (WES) technology provided by Haotian Biotechnology (China) confirmed p.G12D variant in HRAS gene. To elucidate the typical features of CS wit

SUBMITTER: Qian W 

PROVIDER: S-EPMC8222857 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature