Danda Sumita, van Rahden Vanessa A, John Deepa, Paul Padma, Raju Renu, Koshy Santosh, Kutsche Kerstin
Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Mol Syndromol. 2014 Aug;5(5):251-6. doi: 10.1159/000365768. Epub 2014 Aug 1.
In this study, we report on 2 sisters from India with oculo-facio-cardio-dental (OFCD) syndrome caused by a novel heterozygous mutation c.3490C>T (p.R1164*) in the BCOR gene. OFCD syndrome is an X-linked inherited disorder which is lethal in males. Interestingly, both parents of the sisters were phenotypically normal, and DNA analysis from blood and buccal or saliva cells failed to detect the BCOR mutation found in their 2 daughters. To the best of our knowledge, for the first time, we provide indirect evidence of germline mosaicism for the BCOR mutation in one of the parents of the 2 sisters affected by OFCD syndrome. Although this condition is lethal in males, gonadal mosaicism could also be present in the father. The relevance of clinical diagnosis and mutation analysis required for genetic counseling is described in this family.
在本研究中，我们报告了来自印度的两姐妹患有眼-面-心-牙（OFCD）综合征，该综合征由BCOR基因中的一种新型杂合突变c.3490C>T（p.R1164*）引起。OFCD综合征是一种X连锁遗传性疾病，男性患者会致死。有趣的是，这两姐妹的父母表型均正常，对其血液、口腔或唾液细胞进行的DNA分析未能检测到在她们两个女儿中发现的BCOR突变。据我们所知，我们首次为受OFCD综合征影响的两姐妹之一的父母中的BCOR突变提供了生殖系嵌合体的间接证据。尽管这种情况在男性中是致死的，但父亲中也可能存在性腺嵌合体。本文描述了该家族中遗传咨询所需的临床诊断和突变分析的相关性。
