Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1

2004 ◽  
Vol 138 (5) ◽  
pp. 749-755 ◽  
Author(s):  
Marielle Payne ◽  
Zhenglin Yang ◽  
Bradley J. Katz ◽  
Judith E.A. Warner ◽  
Christopher J. Weight ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Missense Mutation ◽  
Optic Atrophy ◽  
Sensorineural Hearing ◽  
Dominant Optic Atrophy

Dominant optic atrophy and sensorineural hearing loss

1991 ◽  
Vol 11 (5) ◽  
pp. 237-240
Author(s):  
M. P. Waterschoot ◽  
J. M. Guerit ◽  
M. Gersdorff ◽  
E. C. Laterre
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Optic Atrophy ◽  
Sensorineural Hearing ◽  
Dominant Optic Atrophy

Dominant optic atrophy with sensorineural hearing loss

1982 ◽  
Vol 1 (2) ◽  
pp. 77-88 ◽  
Author(s):  
Franz Grehn ◽  
Guntram Kommerell ◽  
Hans-Hilger Ropers ◽  
Barbara Giesing
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Optic Atrophy ◽  
Sensorineural Hearing ◽  
Dominant Optic Atrophy

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

CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss

2015 ◽  
Vol 30 (13) ◽  
pp. 1749-1756 ◽  
Author(s):  
Gali Heimer ◽  
Yair Sadaka ◽  
Lori Israelian ◽  
Ariel Feiglin ◽  
Alessandra Ruggieri ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cerebellar Ataxia ◽  
Optic Atrophy ◽  
Sensorineural Hearing

scholarly journals Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Xiaodong Gu ◽  
Wenling Su ◽  
Mingliang Tang ◽  
Luo Guo ◽  
Liping Zhao ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Missense Mutation ◽  
Massively Parallel Sequencing ◽  
Mutation Screening ◽  
Coagulation Factor ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
Age Related ◽  
Factor C

DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.

scholarly journals A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family

2021 ◽  
Vol 10 (2) ◽  
pp. 378-387
Author(s):  
Yingyuan Guo ◽  
Yanru Hao ◽  
Dejun Zhang ◽  
Hongen Xu ◽  
Duojiao Yu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Missense Mutation ◽  
Sensorineural Hearing ◽  
Chinese Family ◽  
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