A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.

ABSTRACT:

Rationale

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare.

Patient concerns

A 13-year, 8-month-old Chinese Han boy presenting with short stature for the past 7 years.

Diagnosis

X-linked SEDT was established by a combination of clinical and radiographic features, confirmed by targeted next-generation sequencing. Genetic testing of the TRAPPC2 gene revealed a novel missense variant with c.260A>C (p.H87P) hemizygote in exon5. The mother was found to be a heterozygous TRAPPC2 carrier, whereas the father was nor

SUBMITTER: Zhang L 

PROVIDER: S-EPMC7982231 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature