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There was, and still is, a lot of speculation about what caused Beethoven's hearing loss. As with most medical conditions, there can be influences from genetic and environmental factors.
[3] [14] Additionally, hearing loss is not as common as in type 2. [3] Rarely, cleft lip has been reported in this form of Waardenburg syndrome. [15] Type 4 can also be caused by a mutation in SOX10 (the same gene as in type 2E), in which it is known as type 4C; hearing loss is very common and severe in this type. [16]
An analysis of locks of Ludwig van Beethoven’s hair suggest he had lead poisoning. It may have contributed to chronic ailments, deafness and — ultimately — his demise.
CHARGE syndrome is rare, and caused by a genetic disorder.The acronym comes from the features associated with CHARGE syndrome which are as follows: C- coloboma of the eye, H- heart defects, A- atresia of nasal choanae, R- retardation of growth and/or development, G- genital and/or urinary abnormalities, and E- ear abnormalities and deafness.
Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] It is inherited in an autosomal dominant manner. [2]This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who ...
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This condition was first discovered in 1995 by Melberg et al. when they described 5 members of a 4-generation Swedish family where cerebellar ataxia and sensorineural deafness presented as an autosomal dominant trait, 4 of them had narcolepsy and 2 had diabetes mellitus. The oldest members had psychiatric symptoms, neurological anomalies, and ...
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