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First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
Eur. J. Med. Genet. 60, 494-498 (2017)
Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced translocation disrupting all isoforms were documented. The latter four patients were affected by a variable degree of intellectual disability, attention deficit hyperactivity disorder and autism. Here, we report on a boy with speech impairment, intellectual disability, autistic features, macrocephaly, macrosomia, chronic hunger and an altered sleeping pattern. By trio-whole-exome sequencing, we identified the first de novo nonsense mutation affecting all ANK3 transcripts. Thus, our data expand the phenotype of ANK3-associated diseases and suggest an isoform-based, phenotypic continuum between dominant and recessive ANK3-associated pathologies.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ank3 ; Attention Deficit Hyperactivity Disorder ; Autism Spectrum Disorder ; Intellectual Disability ; Speech Impairment; De-novo Mutations; Giant Ankyrin-g; Bipolar Disorder; Ranvier; Ank3; Nodes; Gene; Isoforms; Identification; Synapses
ISSN (print) / ISBN 1769-7212
e-ISSN 1729-7212
Zeitschrift European Journal of Medical Genetics
Quellenangaben Band: 60, Heft: 9, Seiten: 494-498 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort Amsterdam
Begutachtungsstatus peer-reviewed