DDOD syndrome

Definition:

Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome have normal development and cognitive functions. It has been suggested that de novo mutation in ATP6V1B2 impairs lysosome acidification and causes DDOD.

References:

[1]. Ibis Menendez, et al. Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. Clin Case Rep. 2017 Feb 8;5(4):376-379. [Content Brief]

[2]. Yongyi Yuan, et al. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 2014 Nov;24(11):1370-3. [Content Brief]

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