(TCOF1) Treacher Collins-Franceschetti Syndrome
• Cell line states: (Nt. 4374 ins. A/N)
• Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS). TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; and (4) cleft palate.