Identificador persistente para citar o vincular este elemento:
http://hdl.handle.net/10553/43691
Título: | Novel frameshift CHD7 mutation related to CHARGE syndrome | Autores/as: | Martínez Quintana, Efrén Rodríguez-González, F. Garay-Sánchez, P. Tugores, A. |
Clasificación UNESCO: | 32 Ciencias médicas | Palabras clave: | Abnormalities CHARGE syndrome CHD7 gene Frameshift Heart, et al. |
Fecha de publicación: | 2014 | Editor/a: | 1661-8769 | Publicación seriada: | Molecular Syndromology | Resumen: | CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene CHD7 are reported to be a major cause of CHARGE syndrome. Herein, we report the case of a 27-year-old patient presenting with typical symptoms who bears a novel heterozygous insertion in exon 2 of the CHD7 gene (c.327dupC) resulting in an amino acid substitution and a frameshift (p.Val110Argfs*22) that leads to a 131-amino-acid truncated polypeptide, likely representing a null allele. Parental genetic screening confirmed the sporadic origin of the mutation. | URI: | http://hdl.handle.net/10553/43691 | ISSN: | 1661-8769 | DOI: | 10.1159/000355431 | Fuente: | Molecular Syndromology [ISSN 1661-8769], v. 5, p. 36-40 |
Colección: | Artículos |
Citas SCOPUSTM
2
actualizado el 08-sep-2024
Citas de WEB OF SCIENCETM
Citations
3
actualizado el 08-sep-2024
Visitas
25
actualizado el 04-may-2024
Google ScholarTM
Verifica
Altmetric
Comparte
Exporta metadatos
Los elementos en ULPGC accedaCRIS están protegidos por derechos de autor con todos los derechos reservados, a menos que se indique lo contrario.