title: Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
abstract: Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies, pigmentary skin defects, digital fibromas, and generalized bone involvement due to a recurrent mutation in the filamin A (FLNA) gene. We here report the mutation c.5217G>A in FLNA in three families with TODPD and we found possible germline and somatic mosaicism in two out of the three families. The occurrence of somatic and germline mosaicism for TODPD indicates that caution should be taken in counseling recurrence risks for these conditions upon presentation of an isolated case.
authors.affiliation: Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.affiliation: Servicio de Genética, Hospital Garraham Buenos Aires, Argentina.
authors.forename: Maria
authors.initials: M
authors.lastname: Torrado
authors.affiliation: Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
authors.forename: Maria Del Carmen
authors.initials: Mdel C
authors.lastname: Fernandez
authors.affiliation: Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Tello
authors.affiliation: Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires, Argentina.
authors.forename: Claudia L
authors.initials: CL
authors.lastname: Arberas
authors.affiliation: Telethon Institute of Genetics and Medicine Naples, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cardinale
authors.affiliation: Telethon Institute of Genetics and Medicine Naples, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Piccolo
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine Houston, Texas.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Bacino
keywords: FLNA; Filamin A; X-linked dominant; terminal osseous dysplasia with pigmentary defects