Table 2 Recurrent variants in the cohort

CAPN1

c.1969G>T, p.(Glu657*)

AR (homozygous)

Novel

2

DOK7

c.1124_1127dup, p.(Ala378Serfs*30)

AR

Founder mutation

2 (both cases compound heterozygous)

ECEL1

c.494T>C, p.(Leu165Pro)

AR

Founder mutation

2 (one homozygous and one compound heterozygous case)

EXT1

c.1018C>G, p.(Arg340Gly) and c.1018C>T, p.(Arg340Cys)

AD

Hotspot mutation

2 (one each)

FGFR3

c.1620C>A, p.(Asn540Lys)

AD

Hotspot mutation

2

FKRP

c.826C>A p.(Leu276Ile)

AR (homozygous)

Founder mutation

12

LAMA2

c.?_4312_4436_?dup

AR (homozygous)

Novel

2

PRRT2

c.694dup

p.(Arg217Profs*8)

AD

Hotspot mutation

6

RFC1

Expansion

AR (homozygous)

Founder mutation

5

TIA1

c.1150G>A, p.(Glu384Lys)

AD

Founder mutation

2

TTR

c.148G>A, p.(Val50Met)

AD

Founder mutation

2