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

Hearing loss and Waardenburg's syndrome: Implications for genetic counselling

1990 ◽  
Vol 104 (2) ◽  
pp. 97-103 ◽  
Author(s):  
Valerie Newton
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Genetic Counselling ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Type Ii ◽  
Waardenburg Syndrome ◽  
Bilateral Sensorineural Hearing Loss ◽  
Asymmetric Configuration

AbstractTen families in which there were 79 individuals affected by Waardenburg's syndrome were examined for penetrance of sensorineural hearing loss and expressivity of the gene. There were 47 with Waardenburg syndrome Type 1 and 32 with Waardenburg syndrome Type II. Penetrance of senorineural hearing loss was calculated after exclusion of the probands and was found not to be significantly different between each syndrome type but to show marked interfamilial variation. A bilateral sensorineural hearing loss was present more frequently than unilateral with the proportion varying between families. Certain audiometric shapes were found to recur in the syndrome but, apart from possibly one asymmetric configuration, seem to have been described also in other conditions. The degree of hearing loss was very variable within and between families. The implications for genetic counselling are discussed and the advantages of basing risk factors upon individual families rather than syndrome types emphasized.

scholarly journals Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism

2019 ◽  
Vol 39 (1) ◽  
pp. 60-62
Author(s):  
Kavinda Chandimal Dayasiri ◽  
Chamila Perera ◽  
Wasana Bandara ◽  
Jagath Ranasinghe
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Features ◽  
Congenital Hypothyroidism ◽  
Autosomal Dominant ◽  
Incidental Finding ◽  
Syndrome Type ◽  
Waardenburg Syndrome ◽  
Minor Criteria

Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.

Clinical characteristics and prognosis of low frequency sensorineural hearing loss without vertigo

2015 ◽  
Vol 136 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Ah Ra Jung ◽  
Myung Gu Kim ◽  
Sung Su Kim ◽  
Sang Hoon Kim ◽  
Seung Geun Yeo
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Clinical Characteristics ◽  
Low Frequency ◽  
Sensorineural Hearing
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