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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