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. 2024 Oct 16;143(11):1379–1399. doi: 10.1007/s00439-024-02706-w

Table 1.

Follow-up of selected variants in human deafness genes in group AR

Gene Variant Findingsa
ABHD12

Chr20(GRCh37):g.25282937del

NM_001042472.3:c.1075del

p.(Val359Phefs*27) (homozygous)

Likely cause of HL, no segregation analysis possible

Gene not yet in HL gene panel for clinical exome sequencing
LRP2

Chr2(GRCh37):g.170002322G > A

NM_004525.3:c.12923C > T

p.(Thr4308Met)

 Variants do not co-segregate with HL

Chr2(GRCh37):g.170070387G > T

NM_004525.3:c.5827-7C > A

p.?

Chr2(GRCh37):g.170081863G > T

NM_004525.3:c.5495C > A

p.(Ser1832*)

Chr2(GRCh37):g.170081873C > A

NM_004525.3:c.5485G > T

p.(Asp1829Tyr)

Variants are in heterozygous state unless stated otherwise

aOne cell per subject