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

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Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. / Danda, Sumita; van Rahden, Vanessa A; John, Deepa; Paul, Padma; Raju, Renu; Koshy, Santosh; Kutsche, Kerstin.

In: MOL SYNDROMOL, Vol. 5, No. 5, 01.08.2014, p. 251-6.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Danda, S, van Rahden, VA, John, D, Paul, P, Raju, R, Koshy, S & Kutsche, K 2014, 'Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome', MOL SYNDROMOL, vol. 5, no. 5, pp. 251-6. https://doi.org/10.1159/000365768

APA

Danda, S., van Rahden, V. A., John, D., Paul, P., Raju, R., Koshy, S., & Kutsche, K. (2014). Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. MOL SYNDROMOL, 5(5), 251-6. https://doi.org/10.1159/000365768

Vancouver

Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy S et al. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. MOL SYNDROMOL. 2014 Aug 1;5(5):251-6. https://doi.org/10.1159/000365768

Bibtex

@article{122fb0202ff940b2ac98e22dedf4ca67,
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.",
author = "Sumita Danda and {van Rahden}, {Vanessa A} and Deepa John and Padma Paul and Renu Raju and Santosh Koshy and Kerstin Kutsche",
year = "2014",
month = aug,
day = "1",
doi = "10.1159/000365768",
language = "English",
volume = "5",
pages = "251--6",
journal = "MOL SYNDROMOL",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "5",

}

RIS

TY - JOUR

T1 - Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome

AU - Danda, Sumita

AU - van Rahden, Vanessa A

AU - John, Deepa

AU - Paul, Padma

AU - Raju, Renu

AU - Koshy, Santosh

AU - Kutsche, Kerstin

PY - 2014/8/1

Y1 - 2014/8/1

N2 - 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.

AB - 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.

U2 - 10.1159/000365768

DO - 10.1159/000365768

M3 - SCORING: Journal article

C2 - 25337074

VL - 5

SP - 251

EP - 256

JO - MOL SYNDROMOL

JF - MOL SYNDROMOL

SN - 1661-8769

IS - 5

ER -