Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
Título del documento: Waardenburg Syndrome: description of two novel mutations in the PAX3 gene, one of which incompletely penetrant
Revista: Genetics and molecular biology
Base de datos: PERIÓDICA
Número de sistema: 000348173
ISSN: 1415-4757
Autores: 1
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Instituciones: 1Universidade de Sao Paulo, Centro de Estudos do Genoma Humano, Sao Paulo. Brasil
Año:
Periodo: Dic
Volumen: 29
Número: 4
Paginación: 601-604
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Experimental
Resumen en inglés We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5
Disciplinas: Medicina
Palabras clave: Neurología,
Genética,
Síndrome de Waardenburg,
Mutaciones,
Gen PAX3,
Penetrancia incompleta,
Deficiencia auditiva neurosensorial,
Telecanto
Keyword: Medicine,
Neurology,
Genetics,
Waardenburg syndrome,
Mutations,
PAX3 gene,
Incomplete penetrance,
Sensorineural hearing impairment,
Telecanthus
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