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Region Hovedstaden - en del af Københavns Universitetshospital
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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

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  • Julia Felden
  • Britta Baumann
  • Manir Ali
  • Isabelle Audo
  • Carmen Ayuso
  • Beatrice Bocquet
  • Ingele Casteels
  • Blanca Garcia-Sandoval
  • Samuel G Jacobson
  • Bernhard Jurklies
  • Ulrich Kellner
  • Line Kessel
  • Birgit Lorenz
  • Martin McKibbin
  • Isabelle Meunier
  • Thomy de Ravel
  • Thomas Rosenberg
  • Klaus Rüther
  • Maria Vadala
  • Bernd Wissinger
  • Katarina Stingl
  • Susanne Kohl
Vis graf over relationer

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing variants, of which 12 are novel, were identified. The mutation spectrum also includes a novel copy number variation, a heterozygous duplication of exon 4, of which the breakpoint matches exactly that of the previously reported exon 4 deletion. Two patients carry just a single heterozygous variant. In addition to our previous study on GNAT2-ACHM, we also present detailed clinical data of these patients.

OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind40
Udgave nummer8
Sider (fra-til)1145-1155
Antal sider11
ISSN1059-7794
DOI
StatusUdgivet - aug. 2019

Bibliografisk note

© 2019 Wiley Periodicals, Inc.

ID: 59167194