Table 2 MEPE variants identified in a large group of unrelated individuals affected with otosclerosis and controls

From: Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Race/origin

Genomic positiona

Variant name

cDNA change

Amino acid change

dbSNP ID

Max MAF% gnomAD

MAF% gnomAD

Case/controlb (frequency)

p value Fisher exact

NMD expected

RGD intact

ASARM intact

White/European

chr4:88766219–88766222

M2

c.199_202delGAAA

p.(Lys70Ilefs*26)

rs753138805

0.315 (FIN)

0.097

9/1 (0.0056/0.00065)

0.0217

No

No

No

White/European

chr4:88755915–88755937

M3

c.49_54+17delinsCA

p.(Ala17Glnfs*37)

NA

NA

NA

1/0 (0.0006/0)

1

Yes

NA

NA

White/European

chr4:88766204

M4

c.184G>T

p.(Glu62*)

NA

NA

NA

1/0 (0.0006/0)

1

No

No

No

White/European

chr4:88766512

M5

c.496dup

p.(Glu166Glyfs*9)

rs756230387

0.003 (AMR)

8.138×10–4

1/0 (0.0006/0)

1

No

No

No

White/European

chr4:88766637

M6

c.617delG

p.(Ser206Ilefs*3)

rs115322331

0.046 (NFE)

0.024

6/1 (0.0037/0.00065)

0.1254

No

No

No

White/European

chr4:88766698

M7

c.679dup

p.(Ser227Phefs*9)

NA

NA

NA

0/1 (0/0.00065)

1

No

No

No

  1. AMR admixed American, ASARM acidic serine aspartate-rich MEPE-associated, cDNA complementary DNA, FIN Finnish, M mutation, MAF minor allele frequency, NA not applicable, NFE non-Finnish European, NMD nonsense mediated decay.aGenomic position is with respect to chromosome 4 in hg19. Variants are numbered from the first nucleotide of the initiation codon in the nucleotide sequence NM_001184694 (MEPE) or for protein NP_001171623.1.
  2. bExcluding the probands from the large families included in the smMIPs experiment, so for a total of 1604 affected individuals and 1538 controls.
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