Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

摘要: Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction the globe on attempted adduction. can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to “Okihiro syndrome” or “Duane (DRRS). We ascertained three pedigrees DRRS mapped their disease gene 21.6-cM region chromosome 20 flanked markers D20S888 D20S102. A new member SAL family proposed C2H2 zinc finger transcription factors, SALL4, falls within region. Mutation analysis SALL4 in revealed one nonsense two frameshift heterozygous mutations. represents first identified second malformation resulting from mutations genes likely plays critical role abducens motoneuron development.