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Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
TLDR
The TMC1 protein might have an important function in K+ channels of inner hair cells, which would be consistent with the hypothetical structure of protein domains in which sequence variants were identified. Expand
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31‐q22.3
  • M. Aslam, M. Wajid, +7 authors S. Leal
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 15 February 2005
TLDR
A consanguineous family with autosomal recessive nonsyndromic hearing impairment was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31‐q22.3, which represents the third autosome recessive NSHI locus to map to chromosome 3.3. Expand
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
TLDR
The data support the hypothesis that severity is a function of genotype and its effect on the amino acid sequence and a bigger cohort is required to establish non-progressivity more definitively. Expand
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
TLDR
From a large collection of families with autosomal recessive non-syndromic hearing impairment from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2, with maximum multipoint LOD scores of 4.8 and 4.6. Expand
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
TLDR
Putatively functional sequence variants in the transmembrane inner ear (TMIE) gene were found to segregate with hearing impairment in four families but were not seen in not less than 110 ethnically matched control chromosomes. Expand
A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3
TLDR
A novel AR non-syndromic HI locus was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds and three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants. Expand
Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32
TLDR
Using linkage analysis, a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, is mapped. Expand
Phenotypic Characterization of DFNA24: Prelingual Progressive Sensorineural Hearing Impairment
TLDR
It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Expand
Genetic Determinants of Non-syndromic Hearing Impairment
TLDR
Five novel loci for autosomal recessive NSHI, namely DFNB47, DF NB55, DFNB62,DFNB65 and DFNB68, are decribed and the overall prevalence of functional variants for each gene was estimated in the Pakistani population. Expand