Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

Purpose: Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods...

Full description

Bibliographic Details
Main Authors:	Ehab Abdelkader, Lama Enani, Patrik Schatz, Leen Safieh
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2018-04-01
Series:	Saudi Journal of Ophthalmology
Online Access:	http://www.sciencedirect.com/science/article/pii/S1319453417301327

Similar Items

Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
by: Weining Rong, et al.
Published: (2014-01-01)

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome
by: Andrea Frustaci, et al.
Published: (2021-06-01)

A Novel Homozygous MYO7A Mutation: Case Report
by: Mahsa Ahmadi, et al.
Published: (2018-05-01)

A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats.
by: Nadine Held, et al.
Published: (2011-01-01)

Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4
by: Víctor Abad-Morales, et al.
Published: (2020-09-01)

Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
by: Xue Gao, et al.
Published: (2014-01-01)

Aberrant Splicing Events Associated to <i>CDH23</i> Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
by: Rebeca Valero, et al.
Published: (2019-09-01)

Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila
by: Sarita Hebbar, et al.
Published: (2021-01-01)

The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.
by: Lu Yao, et al.
Published: (2016-01-01)

Correction: Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family.
by: Xue Gao, et al.
Published: (2015-01-01)

Homozygous Splice Site Mutation in <i>ZP1</i> Causes Familial Oocyte Maturation Defect
by: Özlem Okutman, et al.
Published: (2020-04-01)

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family
by: Wei Zhai, et al.
Published: (2015-08-01)

Cone photoreceptor degeneration in models of HANAC and Usher syndrome
by: Trouillet, Alix
Published: (2014)

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
by: Nuno Maia, et al.
Published: (2020-12-01)

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure
by: Jin He, et al.
Published: (2018-01-01)

Retinitis Pigmentosa with Congenital Sensorineural Hearing Loss: Ushers Syndrome
by: M H Patil, et al.
Published: (2020-01-01)

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
by: Qi Yang, et al.
Published: (2020-03-01)

Serous retinal detachment after panretinal photocoagulation for proliferative diabetic retinopathy: a case report
by: Patrik Schatz, et al.
Published: (2017-09-01)

A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome
by: Liangshan Li, et al.
Published: (2021-04-01)

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
by: Abdulaziz A. Alshamrani, et al.
Published: (2020-09-01)

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
by: Nathalie Laflamme, et al.
Published: (2021-06-01)

Targeted next-generation sequencing identifies a homozygous nonsense mutation in <it>ABHD12</it>, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
by: Eisenberger Tobias, et al.
Published: (2012-09-01)

Molecular genetic study of autosomal dominant retinitis pigmentosa on chromosome 19q13.4
by: Abu Safieh, Leen
Published: (2003)

Usher Syndrome
by: Ana Fakin, et al.
Published: (2012-06-01)

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
by: Liena E. O. Elsayed, et al.
Published: (2018-05-01)

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
by: Radulfus WN Slijkerman, et al.
Published: (2016-01-01)

CRB1 related retinal degeneration with novel mutation
by: Benjamin K. Ghiam, et al.
Published: (2020-06-01)

Síndrome de Usher: características clínicas Usher's syndrome: clinical characteristics
by: Josilene de Carvalho Soares Liarth, et al.
Published: (2002-08-01)

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
by: Nadia A. Akawi, et al.
Published: (2016-10-01)

Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.
by: P J Talmud, et al.
Published: (1994-03-01)

A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing
by: Chunli Wei, et al.
Published: (2018-06-01)

Ushering in the new century
by: V M Katoch, et al.
Published: (2013-01-01)

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
by: Peter Sparber, et al.
Published: (2020-10-01)

Spectrum of <i>MYO7A</i> Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
by: Rosemary Ida Kabahuma, et al.
Published: (2021-02-01)

Identification & functional analysis of a novel mutant allele, MYO7A c.6335C>G(p.S2112*) of Usher syndrome type II
by: Lin, Wen-Ying, et al.
Published: (2019)

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
by: Huang Yukan, et al.
Published: (2010-08-01)

Splice site mutations in the ATP7A gene.
by: Tina Skjørringe, et al.
Published: (2011-04-01)

Systematic Analysis of Splice-Site-Creating Mutations in Cancer
by: Reyka G. Jayasinghe, et al.
Published: (2018-04-01)

Chronic retinal detachment and neovascular glaucoma after intravitreal stem cell injection for Usher Syndrome
by: Kay T. Khine, et al.
Published: (2020-06-01)

Pathogenetic mechanisms of the retinal degeneration: neuronal degeneration in retinitis pigmentosa.
Published: (1999)