Scopus
🔓 Açık Erişim YÖKSİS ISSN Eşleşti
SJR Q1
A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
American Journal of Human Genetics · Mayıs 2010
YÖKSİS Kayıtları — ISSN Eşleşmesi
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018 ISSN: 0002-9297 SCI-Expanded Q1
Dr. Öğr. Üyesi EBRU MARZİOĞLU ÖZDEMİR →
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018 ISSN: 0002-9297 SCI
Dr. Öğr. Üyesi EBRU MARZİOĞLU ÖZDEMİR →
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
2018 ISSN: 0002-9297 SCI-Expanded Q1
Dr. Öğr. Üyesi EBRU MARZİOĞLU ÖZDEMİR →
Makale Bilgileri
ISSN00029297
Yayın TarihiMayıs 2010
Cilt / Sayfa86 · 797-804
Scopus ID2-s2.0-77951975440
Erişim🔓 Açık Erişim
Özet
More than 270 million people worldwide have hearing loss that affects normal communication. Although astonishing progress has been made in the identification of more than 50 genes for deafness during the past decade, the majority of deafness genes are yet to be identified. In this study, we mapped a previously unknown autosomal-recessive nonsyndromic sensorineural hearing loss locus (DFNB91) to chromosome 6p25 in a consanguineous Turkish family. The degree of hearing loss was moderate to severe in affected individuals. We subsequently identified a nonsense mutation (p.E245X) in SERPINB6, which is located within the linkage interval for DFNB91 and encodes for an intracellular protease inhibitor. The p.E245X mutation cosegregated in the family as a completely penetrant autosomal-recessive trait and was absent in 300 Turkish controls. The mRNA expression of SERPINB6 was reduced and production of protein was absent in the peripheral leukocytes of homozygotes, suggesting that the hearing loss is due to loss of function of SERPINB6. We also demonstrated that SERPINB6 was expressed primarily in the inner ear hair cells. We propose that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress and that loss of this protection results in cell death and sensorineural hearing loss. © 2010 The American Society of Human Genetics.
Yazarlar (25)
1
Asli Sirmaci
2
Seyra Erbek
3
Justin Price
4
Mingqian Huang
5
Duygu Duman
6
F. Başak Cengiz
7
Güney Bademci
8
Suna Tokgöz-Yilmaz
9
Burcu Hişmi
10
Hilal Ozdag
ORCID: 0000-0001-7940-2499
11
Banu Turgut Ozturk
ORCID: 0000-0003-0702-6951
12
Sevsen Kulaksizoǧlu
13
Erkan Yildirim
14
Haris Kokotas
15
Maria Grigoriadou
16
Michael B. Petersen
17
Hashem Shahin
18
Moien Kanaan
19
Mary Claire King
20
Zheng Yi Chen
21
Susan H. Blanton
22
Xue Z. Liu
23
Stephan Zuchner
24
Nejat Akar
25
Mustafa Tekin
Kurumlar
Aghia Sophia Children's Hospital
Athens Greece
Ankara Üniversitesi
Ankara Turkey
Başkent Üniversitesi
Ankara Turkey
Bethlehem University
Bethlehem Palestine
Massachusetts Eye and Ear
Boston United States
Selçuk Üniversitesi
Selçuklu Turkey
University of Miami Leonard M. Miller School of Medicine
Miami United States
University of Washington School of Medicine
Seattle United States
Scimago Dergi (ISSN Eşleşmesi)
American Journal of Human Genetics
Q1
SJR Skoru4,204
H-Index348
YayıncıCell Press
ÜlkeUnited States
Genetics (Q1)
Genetics (clinical) (Q1)
Metrikler
56
Atıf
25
Yazar