Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

Evaluation of MLH1 and MSH2 Gene Mutations in a Subset of Iranian Families with Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

Mutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province

Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sect...

erlin2 mutations in two iranian families with hereditary spastic paraplegia

spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...

Early deterioration of residual hearing in patients with SLC26A4 mutations.

OBJECTIVES/HYPOTHESIS To compare changes in hearing in patients with SLC26A4 during early and late childhood. STUDY DESIGN Retrospective chart review. METHODS A total of 102 patients with biallelic SLC26A4 mutations visited the tertiary referral otolaryngology department between March 2005 and February 2015. Newborn hearing screening tests had been performed on 22 of these patients. We anal...