Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. / 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; de Ravel, Thomy; Rosenberg, Thomas; Rüther, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne.

In: Human Mutation, Vol. 40, No. 8, 2019, p. 1145-1155.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Felden, J, Baumann, B, Ali, M, Audo, I, Ayuso, C, Bocquet, B, Casteels, I, Garcia-Sandoval, B, Jacobson, SG, Jurklies, B, Kellner, U, Kessel, L, Lorenz, B, McKibbin, M, Meunier, I, de Ravel, T, Rosenberg, T, Rüther, K, Vadala, M, Wissinger, B, Stingl, K & Kohl, S 2019, 'Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene', Human Mutation, vol. 40, no. 8, pp. 1145-1155. https://doi.org/10.1002/humu.23768

APA

Felden, J., Baumann, B., Ali, M., Audo, I., Ayuso, C., Bocquet, B., Casteels, I., Garcia-Sandoval, B., Jacobson, S. G., Jurklies, B., Kellner, U., Kessel, L., Lorenz, B., McKibbin, M., Meunier, I., de Ravel, T., Rosenberg, T., Rüther, K., Vadala, M., ... Kohl, S. (2019). Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human Mutation, 40(8), 1145-1155. https://doi.org/10.1002/humu.23768

Vancouver

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B et al. Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human Mutation. 2019;40(8):1145-1155. https://doi.org/10.1002/humu.23768

Author

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 ; de Ravel, Thomy ; Rosenberg, Thomas ; Rüther, Klaus ; Vadala, Maria ; Wissinger, Bernd ; Stingl, Katarina ; Kohl, Susanne. / Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. In: Human Mutation. 2019 ; Vol. 40, No. 8. pp. 1145-1155.

Bibtex

@article{6c04ee35fbc44865abd91f6f3bcf4dba,
title = "Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene",
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 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.",
author = "Julia Felden and Britta Baumann and Manir Ali and Isabelle Audo and Carmen Ayuso and Beatrice Bocquet and Ingele Casteels and Blanca Garcia-Sandoval and Jacobson, {Samuel G} and Bernhard Jurklies and Ulrich Kellner and Line Kessel and Birgit Lorenz and Martin McKibbin and Isabelle Meunier and {de Ravel}, Thomy and Thomas Rosenberg and Klaus R{\"u}ther and Maria Vadala and Bernd Wissinger and Katarina Stingl and Susanne Kohl",
year = "2019",
doi = "10.1002/humu.23768",
language = "English",
volume = "40",
pages = "1145--1155",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "JohnWiley & Sons, Inc.",
number = "8",

}

RIS

TY - JOUR

T1 - Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

AU - Felden, Julia

AU - Baumann, Britta

AU - Ali, Manir

AU - Audo, Isabelle

AU - Ayuso, Carmen

AU - Bocquet, Beatrice

AU - Casteels, Ingele

AU - Garcia-Sandoval, Blanca

AU - Jacobson, Samuel G

AU - Jurklies, Bernhard

AU - Kellner, Ulrich

AU - Kessel, Line

AU - Lorenz, Birgit

AU - McKibbin, Martin

AU - Meunier, Isabelle

AU - de Ravel, Thomy

AU - Rosenberg, Thomas

AU - Rüther, Klaus

AU - Vadala, Maria

AU - Wissinger, Bernd

AU - Stingl, Katarina

AU - Kohl, Susanne

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.1002/humu.23768

DO - 10.1002/humu.23768

M3 - Journal article

C2 - 31058429

VL - 40

SP - 1145

EP - 1155

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 8

ER -

ID: 231596396