Open AccessFirst reported CABP2 ‐related non‐syndromic hearing loss in Northern Europe
Author(s) -
Sheyanth Inger Norlyk,
Højland Allan Thomas,
Okkels Henrik,
Lolas Ihab,
Thorup Christian,
Petersen Michael Bjørn
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1639
Subject(s) - hearing loss , exome sequencing , loss of heterozygosity , compound heterozygosity , sensorineural hearing loss , medicine , danish , consanguinity , genetics , congenital hearing loss , audiology , pediatrics , biology , gene , mutation , allele , linguistics , philosophy
Background CABP2 ‐related non‐syndromic hearing loss have only been reported in a few families worldwide (Iran, Turkey, Pakistan and Italy). The hearing loss was in these cases described as prelingual, symmetrical, and moderate to severe. Methods Following DNA isolation, exome sequencing was performed in 123 genes related to non‐syndromic hearing loss. Variant verification and carrier testing were performed by direct sequencing. Results We report the first Northern European individual with CABP2 ‐related hearing loss: an 8‐year‐old Danish Caucasian boy with non‐syndromic, prelingual, and sensorineural hearing loss, who is homozygous for the splice site variant CABP2 : c. 637+1G>T previously found in three Iranian families and in one Pakistani family. Both parents are of Danish Caucasian origin with no known history of consanguinity. This is in contrast to the four reported Middle Eastern families, who all were consanguineous. However, loss of heterozygosity in a 3.2 Mb area on chromosome 11 including CABP2 was observed, suggesting a common parental ancestor. Conclusion We report the first case of CABP2 ‐related autosomal recessive hearing loss in Northern Europe. The index is of Danish Caucasian origin and found to be homozygous for the splice site variant c.637+1G>T.