Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Annals of Laboratory Medicine
; : 362-365, 2015.
Article
en En
| WPRIM
| ID: wpr-36800
Biblioteca responsable:
WPRO
ABSTRACT
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous hereditary auditory pigmentary disorder characterized by congenital sensorineural hearing loss and iris discoloration. Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. To screen all possible genes associated with WS and congenital deafness simultaneously, we performed diagnostic exome sequencing (DES) in a male patient with clinical features consistent with WS. Using DES, we identified a novel missense variant (c.220C>G; p.Arg74Gly) in exon 2 of the PAX3 gene in the patient. Further analysis by Sanger sequencing of the patient and his parents revealed a de novo occurrence of the variant. Our findings show that DES can be a useful tool for the identification of pathogenic gene variants in WS patients and for differentiation between WS and similar disorders. To the best of our knowledge, this is the first report of genetically confirmed WS in Korea.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Fenotipo
/
Síndrome de Waardenburg
/
ADN
/
Secuencia de Bases
/
Exones
/
Secuencia de Aminoácidos
/
Análisis de Secuencia de ADN
/
Mutación Missense
/
Polimorfismo de Nucleótido Simple
/
Pueblo Asiatico
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Annals of Laboratory Medicine
Año:
2015
Tipo del documento:
Article