Monogenic hearing loss

Gene: CCDC50

Comment on list classification: Changing rating from red to green. 3 cases reported in the literature.

Created: 18 Feb 2019, 11:08 a.m.

Provisional association with ?Deafness, autosomal dominant 44 (607453) in OMIM

PMID: 17503326 - Modamio-Hoybjor et al. (2007) - Spanish family segregating progressive, postlingual, nonsyndromic sensorineural hearing loss. Identified a heterozygous mutation (c.1394_1401dupCACGGCAT) that leads to a frameshift (p.Phe468HisfsX37).

PMID: 24875298 - Vona et al 2014 - family with moderate midgrade HL since birth. A heterozygous missense variant c.227G>A, p.Arg76His was identified.

PMID: 27911912 - Iwasa et al 2016 - a probably pathogenic variant in CCDC50 was found when screening Japansese Autosomal Dominant Sensorineural Hearing Loss Patients. The variant is NM_178335 c.820C>T, p.R274X. The proband had moderate hearing loss. The variant was not found in 538 control chromosomes.

PMID: 27068579 - (Somen et al 2016) - screened patients of Western‐European ethnicity with nonsyndromic, sensorineural, mild to profound, and symmetric HL. Can't find mention of variants in CCDC50 in this publication.

Created: 18 Feb 2019, 11:05 a.m.

Green List (high evidence)

4 different mutations, 4 separate reports so must be 4 families, hearing loss (Vona et al 2014 PMID 24875298), sensorineural hearing loss (Iwasa et al 2016 PMID 27911912), non-syndromic hearing loss (Somen et al 2016 PMID 27068579), progressive hearing loss (Modamio-Hoybjor 2007 PMID 17503326). OMIM #607453

Created: 17 Feb 2019, 4:35 p.m.

Publications

• 24875298
• 27911912
• 27068579
• 17503326

Comment on mode of inheritance: Confirmed on OMIM, and not on imprinted gene list.

Created: 17 Feb 2016, 12:17 p.m.

Comment on list classification: Demoted from green to red as not enough evidence at this time.

Created: 17 Feb 2016, 12:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#607453:?Deafness, autosomal dominant 44[Hearing loss, sensorineural, postlingual progressive (mainly affecting 125Hz to 2,000 Hz)]

Publications

• PMID:12483295
• 14527723
• 16803894
• 17503326

Comment on list classification: Evidence in OMIM from only 1 patient. None in G2P

Created: 29 Jan 2016, 2:31 p.m.

Red List (low evidence)

only 1 mutation reported

Created: 13 Oct 2015, 8:24 p.m.