Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
نویسندگان
چکیده
Our report clarifies the role of ATP6V1B2 in patients with deafness and onycho-osteodystrophy and confirms that a recurring ATP6V1B2 c.1516C>T [p.(Arg506*)], variant causes dominant deafness-onychodystrophy (DDOD) syndrome.
منابع مشابه
Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote ...
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BACKGROUND The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3. METHODS Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation...
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2017