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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.