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Table 1 Summary of clinical features of patients with ELAC2 mutations

From: A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Families F1 F2 F3 F316
Ethnic German Arabic Turkish Pakistani
Patients #61525 (II-2) #57415 (II-3) #61982 (II-5) #36355 (II-1) #36355 (II-2) V-2 V-4 V-5 V-10a V-11
Sex M M F F F F M F M F
Clinical features
Microcephaly + + ? ? ? ? ? ? + +
Psychomotor retardation + + ? ? ? + + + + +
Muscle hypotonia - + + - + ? ? ? + +
HCM + + + + + later DCM ? ? ? Mild septal Hypertrophy Mild septal Hypertrophy
Brain MRI NA Hyper-intensities in basal ganglia NA NA Normal at 20 months NA NA NA Reduced volume of cerebellar vermis + hemispheres NA
Lactic acid level in blood Increased Increased Increased Increased ? NA NA NA Slightly increased NA
Mitoch. function in muscle NA Decreased complex I Decreased complex I Decreased complex I, IV Decreased complex I, IV NA NA NA NA NA
Course death at 6 months Alive at 2.10 years death at 11 months alive at 13 years death at 4.9 years alive at 19 years alive at 17 years alive at 15 years alive at 4 years alive at 2.5 years
mtDNA normal NA NA NA NA NA NA NA normal NA
Zygosity Compound Heterozygous Homozygous Homozygous Homozygous
DNA change c.[631C > T; 1559C > T] c.460 T > C c.1267C > T c.1423 + 2 T > A
Protein change p.[Arg211a; Thr520Ile] p.Phe154Leu p.Leu423Phe frameshift
References Haack et al. 2013 [3] This study
  1. HCM hypertrophic cardiomyopathy, DCM dilated cardiomyopathy, MRI magnetic resonance imaging, Mitoch. mitochondrial. Abbreviations: M male, F female, + present, - absent, NA not available, a index patient, ? no materiel available
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172