scholarly journals c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

2014 ◽  
Vol 37 (4) ◽  
pp. 616-621 ◽  
Author(s):  
Vitor G.L. Dantas ◽  
Karina Lezirovitz ◽  
Guilherme L. Yamamoto ◽  
Carolina Fischinger Moura de Souza ◽  
Simone Gomes Ferreira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Myh9 Mutation

scholarly journals Genetic hearing loss: a study of 228 Brazilian patients

2000 ◽  
Vol 23 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Silvia Bragagnolo Longhitano ◽  
Décio Brunoni
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Genetic Etiology ◽  
Parental Consanguinity ◽  
Genetic Hearing Loss ◽  
Associated Abnormalities

We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.

scholarly journals Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Parminder Kaur ◽  
Inusha Panigrahi ◽  
Harleen Kaur ◽  
Thakurvir Singh ◽  
Chakshu Chaudhry
Keyword(s):  
Hearing Loss ◽  
Bone Density ◽  
Genetic Heterogeneity ◽  
Asian Indians ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Epigenetic Alterations ◽  
High Bone ◽  
High Bone Density ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.

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