期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 23, 期 4, 页码 551-554出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2014.135
关键词
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资金
- Research Foundation Flanders (FWO
- FWO) [G.0320.07.]
- Fonds voor Wetenschappelijk Onderzoek Vlaanderen (FWO) [1.8.012.07.N.02]
- Instituut voor Wetenschap en Technologie [IWT/070715]
- Industria-Academia Partnership Marie Curie Grant of the European Commission [PIAP-GA-2009-251356]
- Belgian Science Policy Office Interuniversity Attraction Poles (BELSPO-IAP) programme [IAP P7/43-BeMGI]
Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.
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