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. 2015 May 16;138(7):1817–1832. doi: 10.1093/brain/awv117

Table 1.

Clinical and genetic data for Cases 1–7

Case 1 Case 2 Case 3 Case 4 Case 5 Case 6 Case 7
Main clinical features Ataxia Ataxia, intellectual disability Ataxia, intellectual disability Ataxia, intellectual disability Ataxia, intellectual disability Ataxia, intellectual disability, febrile convulsions, low CoQ levels of unknown significance Ataxia, intellectual disability
Family history None None None None None None None
Gestation Term 42 weeks Term Term 39 weeks 41 weeks 40 weeks and 3 days
Birth weight (g) 2860 N/A 2730 N/A 3500 3210 4082
Delivery NVD NVD NVD Induction/EMCS NVD NVD NVD
Previous miscarriages None 3 None 1 1 TOP (unknown foetal abnormality); 1 ectopic none 1
Paternal age at conception (years) 40 34 33 36 40 34 33
Evidence of clinical regression No No No No No No No
Age at most recent review 12 4 10 5 8 6 7
Intellectual disability Mild Moderate Moderate Moderate Mild with expressive speech delay (EQ 68) Mild requiring special school (IQ 81) Moderate, requiring special school
Brain imaging Normal Normal Normal Mild cerebellar hypoplasia/ ‘atrophy’ Normal Mild atrophy of cerebellar vermis Cerebellar hypoplasia
Mutated gene KCNC3 ITPR1 ITPR1 SPTBN2 None found None found Recessive mutations identified in putative novel gene
Nucleotide 1283C>T 1759A>G 4459_4460delinsGA 1438C>T Not applicable Not applicable Under investigation
Protein T428I N602D S1487D R480W Not applicable Not applicable Under investigation

  • Nucleotide conservation

  • PhyloP (-14.1-6.4)

  • GERP_RS (-12.3-6.17)

  • 4.64

  • 3.04

  • 3.11

  • 4.98

  • 5.13/6.10

  • 5.71/5.71

  • 3.68

  • 3.55

  • Not applicable

  • Not applicable

  • Not applicable

  • Not applicable

  • Under investigation

  • Under investigation

  • Amino acid conservation

  • PolyPhen2 (0-1)

  • SIFT (1-0)

  • 0.982 (probably damaging)

  • 0 (Deleterious)

  • 0.958 (probably damaging)

  • 0 (Deleterious)

  • 0.905 (possibly damaging)

  • 0 (Deleterious)

  • 1.0 (Damaging)

  • 0 (Deleterious)

  • Not applicable

  • Not applicable

  • Not applicable

  • Not applicable

  • Under investigation

  • Under investigation
Presence in dbSNP No Yes – annotated as pathogenic No Yes – annotated as pathogenic Not applicable Not applicable Under investigation
Number of cases in Exome Variant Server 0 0 0 0 Not applicable Not applicable Under investigation
Functional domain Yes – ion selective pore Yes – IRBIT binding domain Yes – CA8 binding domain Yes – Spectrin repeat 2 Not applicable Not applicable Under investigation

CoQ = coenzyme Q10; EMCS = emergency Caesarian section; N/A = not available; NVD = normal vaginal delivery; TOP = termination of pregnancy.