Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

ABSTRACT:

Background

Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia frequently associated with differences of sex development (DSD). In about 10% of affected individuals, the bowing of the long bones (campomelia) is absent, referred to as acampomelic campomelic dysplasia (ACD). Most patients with ACD carry heterozygous pathogenic variants within the SOX9 coding region or balanced chromosomal rearrangements involving the 17q24 region. A rarer mechanism involves deletions located upstream of the SOX9 gene. Only five ACD cases with upstream deletions of SOX9 have been reported in the medical literature.

Results

We report a female patient affected by ACD with Pierre Robin sequence, complete gonadal dysgenesis (CGD), and hypotonia. Genetic testing revealed a de novo 1.67

SUBMITTER: Szoszkiewicz A 

PROVIDER: S-EPMC12874664 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature