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Table 3 The distribution of clinical features according to genetic variants of DCAF17 reported in the literature

From: Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review

Genetic variant

Clinical manifestations

Endocrine

Ectodermal

Neurological

Ocular

Hypogonadism

Diabetes mellitus

Hypothyr-oidism

Alopecia

Deafness

Intellectual disability

Extrapyramidal features

Keratoc-onus

Myopia

c.1423‐1_1425delGACA

5/5 (100%)

2/5 (40%)

5/5 (100%)

5/5 (100%)

5/5 (100%)

1/5 (20%)

c.270dup

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

c.1091 + 1G > A

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

c.270delA

4/4 (100%)

4/4 (100%)

2/4 (50%)

c.127-3delTAGinsAA

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

c.321 + 1G > A

6/6 (100%)

6/6 (100%)

6/6 (100%)

6/6 (100%)

3/6 (50%)

c.436delC

133/133 (100%)

38/133 (28%)

27/133 (20%)

76/133 (57%)

49/133 (37%)

72/133 (54%)

46/133 (34%)

54/133 (41%)

56/133 (42%)

c.1A > G

2/2 (100%)

2/2 (100%)

1/2 (50%)

c.1091 + 2 T > C

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

1/1 (100%)

c.1488_1489delAG

2/2 (100%)

2/2 (100%)

2/2 (100%)

2/2 (100%)

2/2 (100%)

c.1111delA

2/2 (100%)

2/2 (100%)

2/2 (100%)

2/2 (100%)

2/2 (100%)

c.906 G > A

3/3 (100%)

2/3 (66%)

3/3 (100%)

2/3 (66%)

3/3 (100%)

2/3 (66%)

c.1238delA

3/3 (100%)

3/3 (100%)

3/3 (100%)

3/3 (100%)

3/3 (100%)

c.459- 7_499del

3/3 (100%)

3/3 (100%)

3/3 (100%)

3/3 (100%)

3/3 (100%)