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Table 2 Novelty and geographic origin of ANTXR2 variants identified by the present study

From: Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome

Variant

Predicted consequence

Times observed by present study

Novel?

Patient origin in present study

Patient origin in previous studies†

3c.51delC

p.L19Cfs*56

1

yes

1 x Africa

–

c.134 T > C

p.L45P

4

–

4 x Middle East

Middle East,

c.652 T > C

p.C218R

1

–

1 x Middle East

Asia

c.720delT

p.S240Rfs*20

2

yes

2 x Middle East

–

c.994delC

p.L332Wfs*5

1

yes

1 x Africa

–

c.1073delC

p.P358Lfs*51

1

–

1 x Africa

Asia

c.1073dupC

p.A359Cfs*13

1

–

1 x Middle East

Middle East, Japan, North America, Latin America, Asia, Europe, unreported

c.1074delT

p.A359Hfs*50

6

–

5 x Middle East, 1 x Latin America

Middle East, Asia, Africa, Latin America, unreported

c.1294C > T

p.R432*

1

–

1 x Asia

Latin America, Asia, unreported

c.1180-?_1428 +?del

p.V394_490del

1

–

1 x Middle East

Latin America

  1. †for references see Additional file 3: Table S3
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172