Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference

2016 ◽  
Vol 41 (5) ◽  
pp. 487-497 ◽  
Author(s):  
A.M.M. Oonk ◽  
P.L.M. Huygen ◽  
H.P.M. Kunst ◽  
H. Kremer ◽  
R.J.E. Pennings
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

scholarly journals Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44

2008 ◽  
Vol 73 (4) ◽  
pp. 395-398 ◽  
Author(s):  
A Bhatti ◽  
K Lee ◽  
M-L McDonald ◽  
MJ Hassan ◽  
R Gutala ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

scholarly journals DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

2006 ◽  
Vol 120 (1) ◽  
pp. 85-92 ◽  
Author(s):  
Regie Lyn P. Santos ◽  
Muhammad Jawad Hassan ◽  
Shaheen Sikandar ◽  
Kwanghyuk Lee ◽  
Ghazanfar Ali ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Chromosomal Region ◽  
Syndromic Hearing Impairment

scholarly journals Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

2019 ◽  
Vol 27 (9) ◽  
pp. 1456-1465 ◽  
Author(s):  
Imen Chakchouk ◽  
Di Zhang ◽  
Zhihui Zhang ◽  
Laurent C. Francioli ◽  
Regie Lyn P. Santos-Cortez ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Pathogenic Variants ◽  
Syndromic Hearing Impairment

scholarly journals DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

2004 ◽  
Vol 57 (4) ◽  
pp. 195-199 ◽  
Author(s):  
Muhammad Ansar ◽  
Maria H. Chahrour ◽  
Mohammad Amin ud Din ◽  
Muhammad Arshad ◽  
Sayedul Haque ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

2003 ◽  
Vol 120A (2) ◽  
pp. 180-184 ◽  
Author(s):  
Manjula Maheshwari ◽  
R. Vijaya ◽  
Manju Ghosh ◽  
Shivaram Shastri ◽  
Madhulika Kabra ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Gjb2 Gene ◽  
Syndromic Hearing Impairment ◽  
Indian Scenario

scholarly journals Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 149
Author(s):  
María Domínguez-Ruiz ◽  
Montserrat Rodríguez-Ballesteros ◽  
Marta Gandía ◽  
Elena Gómez-Rosas ◽  
Manuela Villamar ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Auditory Neuropathy ◽  
Spectrum Disorder ◽  
Gene Encoding ◽  
Auditory Neuropathy Spectrum Disorder ◽  
Familial Cases ◽  
Pathogenic Variants ◽  
Cochlear Hearing Loss ◽  
Syndromic Hearing Impairment

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers of reported cases and pathogenic variants are still small to establish accurate genotype-phenotype correlations. We investigated a cohort of 77 Spanish familial cases of AR-NSHI, in whom DFNB1 had been excluded, and a cohort of 84 simplex cases with isolated ANSD in whom OTOF variants had been excluded. All seven exons and exon-intron boundaries of the PJVK gene were sequenced. We report three novel DFNB59 cases, one from the AR-NSHI cohort and two from the ANSD cohort, with stable, severe to profound NSHI. Two of the subjects received unilateral cochlear implantation, with apparent good outcomes. Our study expands the spectrum of PJVK mutations, as we report four novel pathogenic variants: p.Leu224Arg, p.His294Ilefs*43, p.His294Asp and p.Phe317Serfs*20. We review the reported cases of DFNB59, summarize the clinical features of this rare subtype of AR-NSHI and discuss the involvement of PJVK in ANSD.

scholarly journals Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26-q27 in a Consanguineous Kindred from Pakistan

2003 ◽  
Vol 55 (1) ◽  
pp. 71-74 ◽  
Author(s):  
Muhammad Ansar ◽  
Mohammad Ramzan ◽  
Thanh L. Pham ◽  
Kai Yan ◽  
Syed Muhammad Jamal ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment

Localization of a Novel Autosomal Recessive Non-syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3-q13.4

2007 ◽  
Vol 71 (2) ◽  
pp. 271-275 ◽  
Author(s):  
A. Tlili ◽  
S. Masmoudi ◽  
H. Dhouib ◽  
S. Bouaziz ◽  
I. Ben Rebeh ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Syndromic Hearing Impairment
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