Article
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
American journal of human genetics - 5 May 2016
Petrovski Slavé, Küry Sébastien, Myers Candace T, Anyane-Yeboa Kwame, Cogné Benjamin, Bialer Martin, Xia Fan, Hemati Parisa, Riviello James, Mehaffey Michele, Besnard Thomas, Becraft Emily, Wadley Alexandrea, Politi Anya Revah, Colombo Sophie, Zhu Xiaolin, Ren Zhong, Andrews Ian, Dudding-Byth Tracy, Schneider Amy L, Wallace Geoffrey, Rosen Aaron B I, Schelley Susan, Enns Gregory M, Corre Pierre, Dalton Joline, Mercier Sandra, Latypova Xénia, Schmitt Sébastien, Guzman Edwin, Moore Christine, Bier Louise, Heinzen Erin L, Karachunski Peter, Shur Natasha, Grebe Theresa, Basinger Alice, Nguyen Joanne M, Bézieau Stéphane, Wierenga Klaas, Bernstein Jonathan A, Scheffer Ingrid E, Rosenfeld Jill A, Mefford Heather C, Isidor Bertrand, Goldstein David B
Abstract excerpt
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability...
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