Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

Molecular Syndromology

Padma Paul¹  Deepa John¹  Sumita Danda¹  Santosh Koshy¹  Vanessa A. van Rahden¹  Renu Raju¹  Kerstin Kutsche¹ 

[1] aDepartment of Clinical Genetics, Christian Medical College and Hospital, Vellore, India

关键词: BCL6 corepressor gene;    Gonadal mosaicism;    India;    Microphthalmia;    Radiculomegaly;    X-linked;   

DOI  :  10.1159/000365768

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown