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1.
Clin Genet ; 95(1): 177-181, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30298622

RESUMEN

Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift lipoma HMGIC fusion partner-like 5 (LHFPL5) variant c.185delT p.(Phe62Serfs*23) was identified using whole-exome sequencing. It was found in seven families. Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693.


Asunto(s)
Vestibulopatía Bilateral/genética , Sordera/genética , Proteínas de la Membrana/genética , Trastornos Motores/genética , Animales , Vestibulopatía Bilateral/diagnóstico por imagen , Vestibulopatía Bilateral/fisiopatología , Sordera/diagnóstico por imagen , Sordera/fisiopatología , Electrorretinografía , Femenino , Mutación del Sistema de Lectura/genética , Homocigoto , Humanos , Lactante , Masculino , Ratones , Trastornos Motores/diagnóstico por imagen , Trastornos Motores/fisiopatología , Linaje , Tomografía Computarizada por Rayos X , Secuenciación del Exoma
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