TY - JOUR
T1 - P.His165Pro
T2 - A novel SOX9 missense mutation of campomelic dysplasia
AU - Tonni, Gabriele
AU - Ventura, Alessandro
AU - Pattacini, Pierpaolo
AU - Bonasoni, Maria Paola
AU - Baffico, Ave Maria
PY - 2013/5
Y1 - 2013/5
N2 - 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.
AB - 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.
KW - Campomelic dysplasia
KW - Chondrocyte histology
KW - Molecular biology analysis
KW - SOX9 gene
KW - Ultrasound
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U2 - 10.1111/jog.12032
DO - 10.1111/jog.12032
M3 - Article
C2 - 23551858
AN - SCOPUS:84880286343
VL - 39
SP - 1085
EP - 1091
JO - Journal of Obstetrics and Gynaecology Research
JF - Journal of Obstetrics and Gynaecology Research
SN - 1341-8076
IS - 5
ER -