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Table 1 Characteristics of patients with SRD5A3 mutation

From: Adult phenotype and further phenotypic variability in SRD5A3-CDG

Clinical findings

Morava cohort[4]

Kahrizi cohort[8]

Kasapkara patient[7]

Our patients [this paper]

Origin

Turkish

 

5/12

0/3

1/1

2/2

Iranian

 

0/12

3/3

0/1

0/2

Baluchi

 

4/12

0/3

0/1

0/2

Polish

 

3/12

0/3

0/1

0/2

Age at diagnosis

6 month-12 years

Adulthood

3.5 years

Adulthood

Eye findings

Ocular coloboma

 

5/12

2/3

0/1

0/2

Hypoplasia of optic discs

 

3/12

0/3

1/1

0/2

Optic atrophy

 

8/12

0/3

1/1

2/2

Nystagmus

 

12/12

0/3

1/1

2/2

Glaucoma

 

1/12

0/3

0/1

0/2

Cataract

 

2/12

3/3

0/1

0/2

Bone spicule pigmentation

 

0/12

0/3

0/1

2/2

Visual impairment

 

11/12

?/3

1/1

2/2

Strabismus

 

NA

0/3

1/1

0/2

Microphthalmia

 

2/12

0/3

0/1

0/2

Neurologic findings

Muscle hypotonia

 

10/12

0/3

1/1

0/2

Motor retardation

 

8/12

3/3

1/1

2/2

Intellectual disability

 

12/12

3/3

1/1

2/2

Cerebellar vermis atrophy

 

5/11

0/3

1/1

NA

Global cerebellar atrophy

 

2/11

0/3

1/1

NA

Cerebellar ataxia

 

10/11

0/3

1/1

2/2

Spasticity

 

5/12

0/3

0/1

2/2

Movement disorder

 

3/12

0/3

0/1

0/2

Stereotypic movements

 

3/12

0/3

0/1

0/2

Seizures

 

NA

0/3

0/1

0/2

Microcephaly

 

NA

0/3

1/1

0/2

Dysmorphism

 

?/12

3/3

1/1

0/2

Ichthyosiform skin lesions

1/12

0/3

1/1

0/2

Hepato-intestinal disease

0/12

0/3

0/1

0/2

Skeletal findings

Kyphosis

 

0/12

3/3

0/1

0/2

Short upper extremities

 

0/12

0/3

0/1

1/2

Contractures of large joints

 

0/12

3/3

0/1

0/2

Congenital cardiac abnormalities

3/12

0/3

1/1

NA

Coagulation abnormalities

7/8

NA

0/1

0/1

Elevated liver enzymes

9/10

NA

0/1

0/1

Microcytic anemia

8/11

NA

0/1

0/1

Type I TIEF pattern

12/12

0/3

1/1

1 + NA/2

W19X mutation

2/12

0/2

0/1

2/2

  1. ? = the number of patients having the phenotype was not specified; NA = phenotype not assessed.