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Identification of mutations in TCOF1 : Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome
Author(s) -
Dixon Jill,
Ellis Ian,
Bottani Armand,
Temple Karen,
Dixon Michael James
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30010
Subject(s) - treacher collins syndrome , maxilla , palpebral fissure , hypoplasia , facial symmetry , medicine , craniofacial , biology , genetics , orthodontics , anatomy
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1 . TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter‐ and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre‐ and postnatal disease diagnoses in 13 TCS families. © 2004 Wiley‐Liss, Inc.