Identification and characterization of gene mutations in an Iranian patient with Leber congenital amaurosis 9.

Key Clinical Message: The discovery of compound heterozygous mutations (c.245T>C; p.Val82Ala and c.

Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The Gene.

This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineural hearing loss (HL) and retinitis pigmentosa (RP), often associated with the gene. Focusing on an Iranian family exhibiting USH2 symptoms, exome-sequencing was employed for a comprehensive genome analysis in a 30-yearold patient. The investigation unveiled a novel variation (NM_206933.

Retinitis pigmentosa-1 due to an mutation in a consanguineous Iranian family: Report of a novel mutation.

Key Clinical Message: The identification of a novel gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized care.

Abstract: Our study unveils a noteworthy association between retinitis pigmentosa-1 and a newly discovered homozygous mutation (c.5326delC; p.

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.

Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL.

Case Report: Here, we present a nonsyndromic HL (NSHL) case report.

AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report.

This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities.

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss.

Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder.