Journal article

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slave Petrovski, Colleen G Bilancia, Keri Ramsey, Nicole G Griffin, Louise Bier, Megan T Cho, Monica Rosello, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte Haug, Erin L Heinzen, Tristan T Sands, Vinodh Narayanan, Michelle Primiano, Vimla S Aggarwal, Francisca Millan Show all

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2018

Abstract

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non-ambulatory and nonverbal. The most observed substitution affects the p.Ile80 residue encoded in exon 6, with 28% of patients carrying a variant at this residue. Dystonia and growth delay were observed more frequently in patients carryi..

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University of Melbourne Researchers