Terminal osseous dysplasia with pigmentary defects ( TODPD ) due to a recurrent filamin A ( FLNA ) mutation
Year: 2014
Type: article
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.
DOI: 10.1002/mgg3.90
Authors: Nicola Brunetti‐Pierri, Maria Torrado, Maria del Carmen Fernandez, Ana Maria Tello, Claudia L. Arberas, Antonella Cardinale, Pasquale Piccolo, Carlos A. Bacino
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,900
OpenAlex ID: W2155836583