Doctors have urged the public to use genetic screening after a rare genetic disorder was revealed as the cause of deafness and hearing impediments in four members of a family.
Doctors made the discovery while diagnosing a man known as Hsiao-hua (小華), who sought medical attention after experiencing severe hearing loss, Linkou Chang Gung Memorial Hospital clinical pathologist Lu Jang-jih (盧章智) said on Saturday last week.
After Hsiao-hua told doctors that his two brothers also have impaired hearing and that his mother has been deaf since she was 36, doctors obtained the family’s permission to conduct DNA tests, Lu said.
The tests found that Hsiao-hua’s mother has a mutation affecting the gene ACTG1, a dominant trait which she passed down to her sons, Lu said, adding that Hsiao-hua’s eight-year-old daughter tested positive for the mutated gene.
In the auditory system of people with the disorder, sound-detecting cells are abnormally vulnerable to noise and age-related damage, leading to progressive hearing loss and nonsyndromic deafness, he said.
Following the doctors’ suggestion, Hsiao-hua received Cochlear implants and is reportedly happy with the results, he said.
While Hsiao-hua’s daughter has not exhibited any symptoms, the family was advised to limit the child’s exposure to loud noises and to consider Cochlear implants should her hearing become impaired, he added.
Genetic screening has the potential to yield useful medical information for prospective parents, but it depends on sophisticated equipment and skilled technicians to achieve accurate results, the hospital said.
As errors could have profound effects for a family, people seeking the service should consult with their doctors and be careful in selecting a lab, it said.
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