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p.His165Pro : A novel SOX9 missense mutation of campomelic dysplasia
Author(s) -
Tonni Gabriele,
Ventura Alessandro,
Pattacini Pierpaolo,
Bonasoni Maria Paola,
Baffico Ave Maria
Publication year - 2013
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.12032
Subject(s) - missense mutation , sox9 , medicine , mutation , dysplasia , chondrocyte , zebrafish , microbiology and biotechnology , pathology , cancer research , genetics , gene , anatomy , biology , cartilage , transcription factor
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.