scholarly journals Error in Grant Number in: Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene

2011 ◽  
Vol 137 (7) ◽  
pp. 711
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Sensorineural Hearing

scholarly journals Autosomal Dominant Progressive Sensorineural Hearing Loss Due to a Novel Mutation in the KCNQ4 Gene

2011 ◽  
Vol 137 (1) ◽  
pp. 54 ◽  
Author(s):  
Jameson Arnett ◽  
Sarah B. Emery ◽  
Theresa B. Kim ◽  
Angelique K. Boerst ◽  
Kwanghyuk Lee ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Sensorineural Hearing

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

2010 ◽  
Vol 16 (2) ◽  
pp. 93-105 ◽  
Author(s):  
Anne-Martine R. de Heer ◽  
Rob W.J. Collin ◽  
Patrick L.M. Huygen ◽  
Margit Schraders ◽  
Jaap Oostrik ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Vestibular Function ◽  
Sensorineural Hearing

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker–Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss

2018 ◽  
Vol 49 (04) ◽  
pp. 289-295 ◽  
Author(s):  
Muna Al Dhaibani ◽  
Ayman El-Hattab ◽  
Omar Ismayl ◽  
Jehan Suleiman
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Craniocervical Junction ◽  
Epileptic Encephalopathy ◽  
Brain Disease ◽  
West Syndrome ◽  
Sensorineural Hearing ◽  
Muscle Disease

AbstractMutations in B3GALNT2, encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2-related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2. The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia. The clinical and radiologic findings are compatible with a diagnosis of severe muscle-eye-brain disease and more specifically Walker–Warburg syndrome. A more distinct aspect of the clinical phenotype in this child is the presence of refractory epilepsy in the form of epileptic spasms, epileptic encephalopathy, and West syndrome, as well as sensorineural hearing loss. These findings could expand the phenotype of B3GALNT2-related dystroglycanopathy. In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) presenting with sudden sensorineural hearing loss

2005 ◽  
Vol 119 (2) ◽  
pp. 148-151 ◽  
Author(s):  
John S Phillips ◽  
Jacquelyn A King ◽  
Siddharthan Chandran ◽  
Peter R Prinsley ◽  
David Dick
Keyword(s):  
Hearing Loss ◽  
Family History ◽  
Sensorineural Hearing Loss ◽  
World Literature ◽  
Autosomal Dominant ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Cerebrovascular Events ◽  
The World

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant angiopathy characterized by recurrent cerebrovascular events, migraine and dementia. We describe a case of sensorineural hearing loss as the presenting feature of this condition. We have found no previous reports in the world literature of CADASIL presenting with a sudden sensorineural hearing loss. The significance of questioning a patient with regard to family history is exemplified in this case.

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss

2005 ◽  
Vol 125 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Yoshihiro Noguchi ◽  
Takatoshi Yashima ◽  
Akio Hatanaka ◽  
Masamichi Uzawa ◽  
Michio Yasunami ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Autosomal Dominant ◽  
Low Frequency ◽  
Wolfram Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Japanese Family
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