Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.

Details

Serval ID
serval:BIB_03D0B2DF6355
Type
Article: article from journal or magazin.
Collection
Publications
Title
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Journal
Scientific reports
Author(s)
Eandi C.M., Dallorto L., Spinetta R., Micieli M.P., Vanzetti M., Mariottini A., Passerini I., Torricelli F., Alovisi C., Marchese C.
ISSN
2045-2322 (Electronic)
ISSN-L
2045-2322
Publication state
Published
Issued date
15/11/2017
Peer-reviewed
Oui
Volume
7
Number
1
Pages
15681
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations. USH1 patients experienced hearing problems very early in life, followed by visual impairment at 1, 4 and 6 years. Visual symptoms were noticed at age 20 in a patient with homozygous novel MYO7A missense mutation c.849G > A. USH2 patients' auditory symptoms, instead, arose between 11 months and 14 years, while visual impairment occurred later on. A homozygous c.5933_5940del;5950_5960dup in USH2A was detected in one patient with early deafness. One patient with homozygous deletion from exon 23 to 32 in USH2A suffered early visual symptoms. Therefore, the type of mutation in USH2A and MYO7A genes seems to affect the age at which both auditory and visual impairment occur in patients with USH.
Keywords
Adolescent, Adult, Child, DNA Mutational Analysis, Extracellular Matrix Proteins/genetics, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, High-Throughput Nucleotide Sequencing, Humans, Italy, Male, Middle Aged, Mutation, Missense/genetics, Myosin VIIa, Myosins/genetics, Pedigree, Receptors, G-Protein-Coupled/genetics, Sequence Deletion/genetics, Usher Syndromes/classification, Usher Syndromes/genetics, Usher Syndromes/pathology, Young Adult
Pubmed
Web of science
Open Access
Yes
Create date
12/03/2021 18:42
Last modification date
26/03/2021 6:35
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