Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1

Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C (2016)

Publication Type: Journal article

Publication year: 2016

Journal

European Journal of Medical Genetics Elsevier

Book Volume: 59

Pages Range: 549-53

Journal Issue: 10

DOI: 10.1016/j.ejmg.2016.09.002

Abstract

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis.

Authors with CRIS profile

Bernt Popp Institute of Human Genetics Regina Trollmann Professur für Kinder- u. Jugendmedizin Schwerpunkt Neuropädiatrie Christian Büttner Lehrstuhl für Humangenetik Christian Thiel Medizinische Fakultät Ulrike Hüffmeier Lehrstuhl für Humangenetik André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Lehrstuhl für Humangenetik

Involved external institutions

Christian-Albrechts-Universität zu Kiel DE Germany (DE)

How to cite

APA:

Popp, B., Trollmann, R., Büttner, C., Caliebe, A., Thiel, C., Hüffmeier, U.,... Zweier, C. (2016). Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. European Journal of Medical Genetics, 59(10), 549-53. https://doi.org/10.1016/j.ejmg.2016.09.002

MLA:

Popp, Bernt, et al. "Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1." European Journal of Medical Genetics 59.10 (2016): 549-53.

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