Open AccessTerminal osseous dysplasia with pigmentary defects ( TODPD ) due to a recurrent filamin A ( FLNA ) mutation
Author(s) -
BrunettiPierri Nicola,
Torrado Maria,
Fernandez Maria del Carmen,
Tello Ana Maria,
Arberas Claudia L.,
Cardinale Antonella,
Piccolo Pasquale,
Bacino Carlos A.
Publication year - 2014
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.90
Subject(s) - flna , filamin , germline , germline mutation , somatic cell , mutation , dysplasia , genetics , medicine , germline mosaicism , cancer research , biology , gene , cytoskeleton , cell
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.