Usher Syndrome: Genetics of a Human Ciliopathy
Por:
C. FUSTER-GARCIA, B. GARCIA-BOHORQUEZ, A. RODRIGUEZ-MUNOZ, E. ALLER, T. JAIJO, J. MILLAN and G. GARCIA-GARCIA
Publicada:
1 jul 2021
Resumen:
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the "Usher interactome". In the organ of Corti, the USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia. In the retina, the USH protein network is principally located in the periciliary region of the photoreceptors, and plays an important role in the maintenance of the periciliary structure and the trafficking of molecules between the inner and the outer segments of photoreceptors. Even though some genes are clearly involved in the syndrome, others are controversial. Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild comorbidities. In this paper, we review the genetics of Usher syndrome and the spectrum of mutations in USH genes. The aim is to identify possible mutation associations with the disease and provide an updated genotype-phenotype correlation.
Filiaciones:
C. FUSTER-GARCIA:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Genet Unit, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Genet Unit, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain
:
Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain
Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain
Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain
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