Journal article
Authors list: Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia-Sandoval, Blanca; Jacobson, Samuel G.; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; deRavel, Thorny; Rosenberg, Thomas; Ruether, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne
Publication year: 2019
Pages: 1145-1155
Journal: Human Mutation: Variation, Informatics and Disease
Volume number: 40
Issue number: 8
ISSN: 1059-7794
eISSN: 1098-1004
Open access status: Gold
DOI Link: https://doi.org/10.1002/humu.23768
Publisher: Wiley
Abstract:
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 alpha-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.
Citation Styles
Harvard Citation style: Felden, J., Baumann, B., Ali, M., Audo, I., Ayuso, C., Bocquet, B., et al. (2019) Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene, Human Mutation: Variation, Informatics and Disease, 40(8), pp. 1145-1155. https://doi.org/10.1002/humu.23768
APA Citation style: Felden, J., Baumann, B., Ali, M., Audo, I., Ayuso, C., Bocquet, B., Casteels, I., Garcia-Sandoval, B., Jacobson, S., Jurklies, B., Kellner, U., Kessel, L., Lorenz, B., McKibbin, M., Meunier, I., deRavel, T., Rosenberg, T., Ruether, K., Vadala, M., ...Kohl, S. (2019). Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human Mutation: Variation, Informatics and Disease. 40(8), 1145-1155. https://doi.org/10.1002/humu.23768
Keywords
achromatopsia; ALPHA-SUBUNIT; CONE TRANSDUCIN; COPY NUMBER; copy number variations; DEGENERATION; GNAT2; TOTAL COLOURBLINDNESS; transducin; VARIANTS
