P.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia

Gabriele Tonni, Alessandro Ventura, Pierpaolo Pattacini, Maria Paola Bonasoni, Ave Maria Baffico

Research output: Contribution to journalArticlepeer-review

Abstract

Campomelic dysplasia (CD) is a rare skeletal dysplasia caused by mutation in the SOX9 gene located on chromosome 17q24.3-q25.1, which regulates testis and chondrocyte development. Severe bowing of the long bones was seen at second-trimester scan. DNA analysis demonstrated a previously unreported de novo missense mutation in p.His165Pro. Ultrasound-based, molecular biology diagnosis led to early therapeutic termination of pregnancy. Histologic examination of the femoral epyphyseal growth plate confirmed scanty proliferation zone and maturation zone with degenerated chondrocytes.

Original languageEnglish
Pages (from-to)1085-1091
Number of pages7
JournalJournal of Obstetrics and Gynaecology Research
Volume39
Issue number5
DOIs
Publication statusPublished - May 2013

Keywords

  • Campomelic dysplasia
  • Chondrocyte histology
  • Molecular biology analysis
  • SOX9 gene
  • Ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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