title: Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
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.
authors.affiliation: Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Shou-Yen
authors.initials: SY
authors.lastname: Chen
authors.forename: Shio-Jean
authors.initials: SJ
authors.lastname: Lin
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Tsai
authors.forename: Yen-Yin
authors.initials: YY
authors.lastname: Chou
mesh_terms: D055036:Campomelic Dysplasia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D017931:DNA Primers; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D055758:SOX9 Transcription Factor / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D055758:SOX9 Transcription Factor