title: Brachydactyly type E in an Italian family with 6p25 trisomy.
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.
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy. Electronic address: sibusiso.fontana@gmail.com.
authors.forename: Paolo
authors.initials: P
authors.lastname: Fontana
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Tortora
authors.affiliation: Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Petillo
authors.affiliation: Division of Medical Genetics, Galliera Hospital, Genoa, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.affiliation: Division of Medical Genetics, Galliera Hospital, Genoa, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.affiliation: Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Miniero
authors.affiliation: Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: D'Ambrosio
authors.affiliation: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: De Brasi
authors.affiliation: Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Pisanti
mesh_terms: D000328:Adult; D059327:Brachydactyly / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D059785:Karyotype; D050279:Metacarpal Bones / Q000002:abnormalities; D008682:Metatarsal Bones / Q000002:abnormalities; D008875:Middle Aged; D014314:Trisomy / Q000235:genetics*
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors
keywords: 6p25; Brachydactyly; Duplication; FOXC1; Type E