Genetic Screening of the Usher Syndrome in Cuba

Fecha de publicación: 22/05/2019

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

Santana, EE
Lantigua, A

Grupos

Biomedicina Molecular, Celular y Genómica

Leader

José María Millán Salvador
Unidad mixta de investigación en enfermedades raras (CIPF)

Leader

José María Millán Salvador

Abstract

Background: Usher syndrome (USH) is a recessive inherited disease characterized by sensorineural hearing loss, retinitis pigmentosa, and sometimes, vestibular dysfunction. Although the molecular epidemiology of Usher syndrome has been well studied in Europe and United States, there is a lack of studies in other regions like Africa or Central and South America. Methods: We designed a NGS panel that included the 10 USH causative genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, ADGRV1, WHRN, and CLRN1), four USH associated genes (HARS, PDZD7, CEP250, and C2orf71), and the region comprising the deep-intronic c.7595-2144A> G mutation in USH2A. Results: NGS sequencing was performed in 11 USH patients from Cuba. All the cases were solved. We found the responsible mutations in the USH2A, ADGRV1, CDH23, PCDH15, and CLRN1 genes. Four mutations have not been previously reported. Two mutations are recurrent in this study: c.619C>T (p.Arg207*) in CLRN1, previously reported in two unrelated Spanish families of Basque origin, and c.4488G> C (p.Gln1496His) in CDH23, first described in a large Cuban family. Additionally, c.4488G> C has been reported two more times in the literature in two unrelated families of Spanish origin. Conclusion: Although the sample size is very small, it is tempting to speculate that the gene frequencies in Cuba are distinct from other populations mainly due to an "island effect" and genetic drift. The two recurrent mutations appear to be of Spanish origin. Further studies with a larger cohort are needed to elucidate the real genetic landscape of Usher syndrome in the Cuban population.

Datos de la publicación

ISSN/ISSNe:: 1664-8021, 1664-8021
Tipo:: Article
Páginas:: 501-501
DOI:: 10.3389/fgene.2019.00501
Factor de Impacto:: 1,469 SCImago ℠
Cuartil:: Q1 SCImago ℠

Documentos

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Métricas

Filiaciones

Santana, EE:: Univ Ciencias Med Holguin, Ctr Prov Genet, Holguin, Cuba
Fuster-Garcia, C:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain

ISCIII, CIBERER, Madrid, Spain
Aller, E:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain

ISCIII, CIBERER, Madrid, Spain
Jaijo, T:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain

ISCIII, CIBERER, Madrid, Spain
Garcia-Bohorquez, B:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain
Garcia-Garcia, G:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain

ISCIII, CIBERER, Madrid, Spain
Millan, JM:: Instituto de Investigación. Univ Hosp La Fe, Hlth Res Inst La Fe, Valencia, Spain

ISCIII, CIBERER, Madrid, Spain
Lantigua, A:: Ctr Nacl Genet Med, Havana, Cuba

Keywords

retinitis pigmentosa; sensorineural hearing loss; Usher syndrome; deaf-blindness; molecular genetics

Proyectos asociados

CARACTERIZACION MOLECULAR DE PACIENTES CON SINDROME DE USHER. ESTUDIO DE LOS GENES RESPONSABLES: CDH23 Y PCDH15 Y CANDIDATOS: WHRN, CXADR Y PDZK7

Investigador Principal: JOSÉ MARÍA MILLÁN SALVADOR

PI07/0558 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008

MOLECULAR MAECHANISMS OF RETINAL DEGENERATION IN HUMANS WITH RETINITIS PIGMENTOSA. ROLE OF INFLAMMATION, OXIDATIVE STRESS AND GLIAL ACTIVATION

CP09/00118 (MIGUEL SERVET) . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

RED DE BIOBANCOS (BIOBANCOS)

RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

CARACTERIZACION MOLECULAR EN PACIENTES CON SINDROME DE USHER TIPO I MEDIANTE LA APLICACION DE LAS TECNICAS DE SECUENCIACION Y CGH-ARRAY EN GENES RESPONSABLES Y GENES CANDIDATOS

FPU_AP2009-3344 . MINISTERIO DE EDUCACION, CULTURA Y DEPORTE; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010