Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome

Affiliations

¹ Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad, Pakistan; Program in Genetics and Genome Biology (R.D.) and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children, Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Department of Neurolgy (S.Y.K.), Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Gyeonggi-do, Republic of Korea; Program in Genetics and Genome Biology (B.A.M.), Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; and Departments of Pediatrics, Neurology, and Neurotherapeutics (B.A.M.), University of Texas Southwestern, Dallas.

Rubina Dad et al. Neurol Genet. 2017.

. 2017 Sep 22;3(5):e189.

doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct.

¹ Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad, Pakistan; Program in Genetics and Genome Biology (R.D.) and The Centre for Applied Genomics, Genetics and Genome Biology (S.W., S.W.S.), The Hospital for Sick Children, Department of Molecular Genetics (S.W.S.), and McLaughlin Centre (S.W.S.), University of Toronto, Ontario, Canada; Department of Neurolgy (S.Y.K.), Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Gyeonggi-do, Republic of Korea; Program in Genetics and Genome Biology (B.A.M.), Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; and Departments of Pediatrics, Neurology, and Neurotherapeutics (B.A.M.), University of Texas Southwestern, Dallas.

No abstract available

Figures

1. Micol JB, Abdel-Wahab O. The role of additional sex combs-like proteins in Cancer. Cold Spring Harb Perspect Med 2016;6:a026526. - PMC - PubMed
1. Srivastava A, Ritesh KC, Tsan YC, et al. . De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Hum Mol Genet 2016;25:597–608. - PMC - PubMed
1. Bainbridge MN, Hu H, Muzny DM, et al. . De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med 2013;5:11. - PMC - PubMed
1. Kuechler A, Czeschik JC, Graf E, et al. . Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet 2017;25:183–191. - PMC - PubMed
1. Balasubramanian M, Willoughby J, Fry AE, et al. . Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet 2017;54:537–543. - PubMed