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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
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  • Published on:
    Milder phenotype in a boy with Bainbridge Ropers Syndrome and ASXL3 mutation. Expanding the phenotypic spectrum
    • Neeta Lakhani, Specialty Registrar in Clinical Genetics Leicester Royal Infirmary
    • Other Contributors:
      • Pradeep Vasudevan, Head of Service, Consultant in Clinical Genetics and Honorary Professor at University of Leicester
      • Chaya Kapugama, Specialty Registrar (ST5) in Psychiatry of Intellectual Disability
      • Deciphering Developmental Disorders Study DDD Study, Welcome Trust Sanger Institute

    We read with interest the case series of 12 patients with loss-of-function denovo heterozygous mutations in ASXL3, reported by Balasubramanian et al in August 2017. We want to report on a further case of Bainbridge – Ropers Syndrome (BRS) seen in our department. The purpose of this letter is two-fold. The first is to report on the mild features of BRS and the second is to expand the spectrum of features in BRS reiterating that all cases may not have severe features.

    The proband is now 7 years old who first presented to the genetic services at the age of 3 years with global developmental delay and epilepsy. He is the first child of non-consanguineous healthy parent of Indian heritage. There is no family history of learning difficulties, autism or developmental delay.

    He was born after a normal pregnancy by LSCS for prolonged labour with a birth weight of 2.9kg at term. He started sitting independently at 16 months and walking at 22 months. He has speech and language delay. He initially presented with 2 episodes of febrile convulsions; the first lasting 1 minute and second 10 minutes, at 3 and a half years of age. He then went on to develop tonic- clonic seizures thereafter all requiring hospital admission. He was recruited to the deciphering development disorder project (DDD) and on whole exome sequencing detected two variants in ASXL3 and DMD gene respectively.

    This variant is predicted to cause a frameshift mutation resulting in a premature terminat...

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    Conflict of Interest:
    None declared.