Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C (2018)

Publication Type: Journal article

Publication year: 2018

Journal

American Journal of Medical Genetics Part A Wiley-Blackwell

Abstract

Mutations in BCOR cause X-linked dominant and X-linked recessive forms of syndromic microphthalmia. By exome sequencing, we identified the recurrent BCOR mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X-linked recessive BCOR-associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability of BCOR-associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.

Authors with CRIS profile

Steffen Uebe Institute of Human Genetics Christian Thiel Medizinische Fakultät Arif Bülent Ekici Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Medizinische Fakultät

Additional Organisation(s)

Interdisziplinäres Zentrum für Klinische Forschung

How to cite

APA:

Kraus, C., Uebe, S., Thiel, C., Ekici, A.B., Reis, A., & Zweier, C. (2018). Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.40640

MLA:

Kraus, Cornelia, et al. "Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu." American Journal of Medical Genetics Part A (2018).

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