title: Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Vanessa A
authors.initials: VA
authors.lastname: van Rahden
authors.affiliation: Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Deepa
authors.initials: D
authors.lastname: John
authors.affiliation: Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Padma
authors.initials: P
authors.lastname: Paul
authors.affiliation: Department of Ophthalmology, Christian Medical College and Hospital, Vellore, India.
authors.forename: Renu
authors.initials: R
authors.lastname: Raju
authors.affiliation: Department of Dental Surgery, Christian Medical College and Hospital, Vellore, India.
authors.forename: Santosh
authors.initials: S
authors.lastname: Koshy
authors.affiliation: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
keywords: BCL6 corepressor gene; Gonadal mosaicism; India; Microphthalmia; Radiculomegaly; X-linked