title: p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
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.
authors.affiliation: Obstetrics and Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy. tonni.gabriele@ausl.re.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Bonasoni
authors.forename: Ave Maria
authors.initials: AM
authors.lastname: Baffico
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D019943:Amino Acid Substitution; D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D055758:SOX9 Transcription Factor / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human