TY - JOUR
T1 - Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
AU - Vadala', Maria
AU - De Ravel, Thomy
AU - Bocquet, Beatrice
AU - Stingl, Katarina
AU - Ali, Manir
AU - Ali, Manir
AU - Wissinger, Bernd
AU - Ayuso, Carmen
AU - Felden, Julia
AU - Kessel, Line
AU - Audo, Isabelle
AU - Garcia-Sandoval, Blanca
AU - Meunier, Isabelle
AU - Jurklies, Bernhard
AU - Casteels, Ingele
AU - Kessel, Line
AU - Mckibbin, Martin
AU - Rüther, Klaus
AU - Kellner, Ulrich
AU - Baumann, Britta
AU - Lorenz, Birgit
AU - Kohl, Susanne
AU - Rosenberg, Thomas
AU - Jacobson, Samuel G.
PY - 2019
Y1 - 2019
N2 - Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by theinability to discriminate colors, nystagmus, photophobia, and low‐visual acuity. Six geneshave been associated with this rare autosomal recessively inherited disease, including theGNAT2 gene encoding the catalytic α‐subunit of the G‐protein transducin which isexpressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independentfamilies diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patientswith ACHM from 19 independent families with likely causative mutations in GNAT2,representing 1.7% of our large ACHM cohort. In total 22 different potentially diseasecausingvariants, of which 12 are novel, were identified. The mutation spectrum alsoincludes 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 patientscarry 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 theinability to discriminate colors, nystagmus, photophobia, and low‐visual acuity. Six geneshave been associated with this rare autosomal recessively inherited disease, including theGNAT2 gene encoding the catalytic α‐subunit of the G‐protein transducin which isexpressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independentfamilies diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patientswith ACHM from 19 independent families with likely causative mutations in GNAT2,representing 1.7% of our large ACHM cohort. In total 22 different potentially diseasecausingvariants, of which 12 are novel, were identified. The mutation spectrum alsoincludes 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 patientscarry just a single heterozygous variant. In addition to our previous study on GNAT2‐ACHM, we also present detailed clinical data of these patients.
UR - http://hdl.handle.net/10447/362996
M3 - Article
VL - 40
SP - 1145
EP - 1155
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
ER -