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Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
Sofia Steinrücke1, Katja Lohmann1, Aloysius Domingo1
1Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.
Abstract:
Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).
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