Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene

Shou Yen Chen, Shio Jean Lin, Li Ping Tsai, Yen-Yin Chou

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation with or without sex reversal. About 10% of cases that present with milder skeletal features are referred to as acampomelic campomelic dysplasia (ACD). CD and ACD are caused by mutations in SOX9. We report a patient of homozygous SOX9 deletion with minimal skeletal anomaly and female external genitalia in the presence of a male karyotype. The mechanisms explaining the homozygous deletion include a de novo mutation followed by gene conversion, uniparental disomy, or somatic crossing over. Our report highlights the possibility of ACD in XY sex-reversed patients with minimal skeletal presentation.

Original languageEnglish
Pages (from-to)908-911
Number of pages4
JournalUrology
Volume79
Issue number4
DOIs
Publication statusPublished - 2012 Apr 1

All Science Journal Classification (ASJC) codes

  • Urology

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