Brachydactyly type E in an Italian family with 6p25 trisomy
Paolo Fontana1, Cristina Tortora1, Roberta Petillo2
1Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
Abstract:
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
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