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Identification of a novel variant of NHS gene underlying Nance-Horan syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1077-1080, 2021.
Artículo en Chino | WPRIM | ID: wpr-922001
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with Nance-Horan syndrome.@*METHODS@#Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A panel of genes for congenital cataract was subjected to next-generation sequencing (NGS), and candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of American College of Medical Genetics and Genomics (ACMG). mRNA expression was determined by reverse transcriptase-PCR (RT-PCR). Linkage analysis based on short tandem repeats was carried out to confirm the consanguinity.@*RESULTS@#A small insertional variant c.766dupC (p.Leu256Profs*21) of the NHS gene was identified in the proband and his affected mother, but not among unaffected members and the 100 healthy controls. The variant was unreported in Human Gene Mutation Database (HGMD) and other databases. Based on the ACMG guideline, the variant is predicted to be pathogenic (PVS1+PM2+PM6+PP4).@*CONCLUSION@#The novel variant c.766dupC of the NHS gene probably underlay the X-linked dominant Nance-Horan syndrome in this pedigree.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Medicina Estatal / Anomalías Dentarias / Catarata / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación Tipo de estudio: Estudio diagnóstico / Guía de Práctica Clínica Límite: Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Medicina Estatal / Anomalías Dentarias / Catarata / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación Tipo de estudio: Estudio diagnóstico / Guía de Práctica Clínica Límite: Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo