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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.

SUBMITTER: Brunetti-Pierri N

PROVIDER: S-EPMC4303216 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.

Brunetti-Pierri Nicola N Torrado Maria M Fernandez Maria Del Carmen Mdel C Tello Ana Maria AM Arberas Claudia L CL Cardinale Antonella A Piccolo Pasquale P Bacino Carlos A CA

Molecular genetics & genomic medicine 20140808 6

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 sh ...[more]

PMID: 25614868

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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

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