The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

2002 ◽  
Vol 62 (4) ◽  
pp. 306-309 ◽  
Author(s):  
O Uyguner ◽  
T Tukel ◽  
C Baykal ◽  
H Eris ◽  
M Emiroglu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
The Novel ◽  
Palmoplantar Keratoderma ◽  
Turkish Family

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

2010 ◽  
Vol 152A (7) ◽  
pp. 1798-1802 ◽  
Author(s):  
Ralf Birkenhäger ◽  
Nicola Lüblinghoff ◽  
Erick Prera ◽  
Christian Schild ◽  
Antje Aschendorff ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
Palmoplantar Keratoderma ◽  
Clinical Expression

The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

2019 ◽  
Vol 127 ◽  
pp. 109653
Author(s):  
Adelaide Bussini ◽  
Rossana Righi ◽  
Chiara Pessina ◽  
Angelo Genoni ◽  
Eliana Cristofari ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Gjb2 Gene ◽  
Syndromic Hearing Loss

New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma

2008 ◽  
Vol 149A (4) ◽  
pp. 685-688 ◽  
Author(s):  
Sandra Iossa ◽  
Viviana Chinetti ◽  
Gennaro Auletta ◽  
Carla Laria ◽  
Maria De Luca ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Gjb2 Gene ◽  
Palmoplantar Keratoderma ◽  
Syndromic Hearing Loss ◽  
New Evidence

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

2002 ◽  
Vol 23 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Serap Özden ◽  
Füsun Düzcan ◽  
Bernd Wollnik ◽  
G. Ozan Çetin ◽  
Türker Sahiner ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Sensorineural Hearing ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Turkish Family

scholarly journals Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma

2021 ◽  
Vol 21 (04) ◽  
Author(s):  
Anli Shu
Keyword(s):  
Amino Acids ◽  
Linkage Analysis ◽  
Autosomal Dominant ◽  
Frameshift Mutation ◽  
Direct Sequencing ◽  
The Novel ◽  
Palmoplantar Keratoderma ◽  
Causative Gene ◽  
Responsible Gene ◽  
The Family

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis caused by variants of keratin 9 (KRT9) or KRT1 gene. In this study causative gene mapping in a Chinese EPPK family was performed with Two-point linkage analysis and haplotyping. Positive linkage results were obtained on 17q (Zmax=2.06, θmax=0.0) at D17S799, which indicated KRT9 to be the most responsible gene for the family. Subsequently, direct sequencing identified a novel frameshift mutation caused by a 5bp deletion (∆GGAGG) in KRT9 in all affected individuals but not in the unaffected members or the 50 unrelated controls. The frameshift changed the encoding of the following nine amino acids and resulted in a readthrough translation in exon 7. The data revealed that the novel frameshift mutation in KRT9 was responsible for the Chinese EPPK pedigree. The researchers’ findings broaden the spectrum of KRT9 variants and provide further evidence for the highly genetic heterogeneity of EPPK.

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5
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