Disease:Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare , often lethal , dominantly inherited , congenital osteochondrodysplasia , associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones , unusually small scapulae , deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate , micrognatia , flat face and hypertelorism are common. Various defects of the ear are often evident , affecting the cochlea , malleus incus , stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. ,Function:Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. ,similarity:Contains 1 HMG box DNA-binding domain. ,
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