由于细丝蛋白A（FLNA）复发性突变导致的伴有色素沉着缺陷的终末骨发育异常（TODPD）。
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
作者信息
Brunetti-Pierri Nicola, Torrado Maria, Fernandez Maria Del Carmen, Tello Ana Maria, Arberas Claudia L, Cardinale Antonella, Piccolo Pasquale, Bacino Carlos A
机构信息
Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.
Servicio de Genética, Hospital Garraham Buenos Aires, Argentina.
出版信息
Mol Genet Genomic Med. 2014 Nov;2(6):467-71. doi: 10.1002/mgg3.90. Epub 2014 Aug 8.
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.
伴有色素沉着缺陷的终末骨发育异常（TODPD）是一种X连锁显性综合征，具有远端肢体异常、皮肤色素沉着缺陷、指纤维瘤以及由于细丝蛋白A（FLNA）基因反复突变导致的全身骨骼受累。我们在此报告三个患有TODPD的家系中FLNA基因的c.5217G>A突变，并且我们在三个家系中的两个家系中发现了可能的生殖系和体细胞镶嵌现象。TODPD的体细胞和生殖系镶嵌现象的出现表明，在出现孤立病例时，在咨询这些疾病的复发风险时应谨慎。
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