Journal
EXPERIMENTAL BIOLOGY AND MEDICINE
Volume 246, Issue 13, Pages 1524-1532Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/1535370221999746
Keywords
Non-syndromic hearing impairment; autosomal dominant inheritance; DMXL2; Africa
Categories
Funding
- National Institute of Health [U01-HG-009716]
- African Academy of Science [H3A/18/001]
- Wellcome Trust
- National Institute of Deafness and other Communication Disorders [R01 DC003594, DC016593, DC01165]
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A novel missense variant in the DMXL2 gene was identified to be associated with non-syndromic sensorineural hearing impairment, providing additional evidence for the involvement of DMXL2 in the etiology of hearing impairment.
Approximately half of congenital hearing impairment cases are inherited, with non-syndromic hearing impairment (NSHI) being the most frequent clinical entity of genetic hearing impairment cases. A family from Cameroon with NSHI was investigated by performing exome sequencing using DNA samples obtained from three family members, followed by direct Sanger sequencing in additional family members and controls participants. We identified an autosomal dominantly inherited novel missense variant [NM_001174116.2:c.918G>T; p.(Q306H)] in DMXL2 gene (MIM:612186) that co-segregates with mild to profound non-syndromic sensorineural hearing impairment . The p.(Q306H) variant which substitutes a highly conserved glutamine residue is predicted deleterious by various bioinformatics tools and is absent from several genome databases. This variant was also neither found in 121 apparently healthy controls without a family history of hearing impairment , nor 112 sporadic NSHI cases from Cameroon. There is one previous report of a large Han Chinese NSHI family that segregates a missense variant in DMXL2. The present study provides additional evidence that DMXL2 is involved in hearing impairment etiology, and we suggest DMXL2 should be considered in diagnostic hearing impairment panels.
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