Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Article
de En
| MEDLINE
| ID: mdl-31058429
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Troubles de la vision des couleurs
/
Analyse de séquence d'ADN
/
Protéines G hétérotrimériques
/
Mutation
Limites:
Adolescent
/
Adult
/
Aged
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Langue:
En
Journal:
Hum Mutat
Sujet du journal:
GENETICA MEDICA
Année:
2019
Type de document:
Article
Pays d'affiliation:
Allemagne