Article
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
American journal of medical genetics. Part A - 1 Nov 2018
Hemati Parisa, Revah-Politi Anya, Bassan Haim, Petrovski Slavé, Bilancia Colleen G, Ramsey Keri, Griffin Nicole G, Bier Louise, Cho Megan T, Rosello Monica, Lynch Sally Ann, Colombo Sophie, Weber Astrid, Haug Marte, Heinzen Erin L, Sands Tristan T, Narayanan Vinodh, Primiano Michelle, Aggarwal Vimla S, Millan Francisca, Sattler-Holtrop Shannon G, Caro-Llopis Alfonso, Pillar Nir, Baker Janice, Freedman Rebecca, Kroes Hester Y, Sacharow Stephanie, Stong Nick, Lapunzina Pablo, Schneider Michael C, Mendelsohn Nancy J, Singleton Amanda, Loik Ramey Valerie, Wou Karen, Kuzminsky Alla, Monfort Sandra, Weiss Monica, Doyle Samantha, Iglesias Alejandro, Martinez Francisco, Mckenzie Fiona, Orellana Carmen, van Gassen Koen L I, Palomares Maria, Bazak Lily, Lee Andy, Bircher Ana, Basel-Vanagaite Lina, Hafström Maria, Houge Gunnar, Goldstein David B, Anyane-Yeboa Kwame
Abstract excerpt
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...
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