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Table 1 Summary of significant clinical findings

From: Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

 

Family 1

Family 2

Family 3

Family 4 (2 siblings)

Family 5 (3 siblings)

Family 6

Family 7

Family 8 (3 siblings)

ATAD3A variants (NM_001170535.1)

ATAD3C-ATAD3A del (~ 67 KB); ATAD3B-ATAD3A del (~ 38 kb)

ATAD3B-ATAD3A comp het del (~ 38 kb; ~ 38 kb)

ATAD3B-ATAD3A del (~ 38 kb); c.229C>G; p.(Leu77Val)

Exon 3–4 del (c.(282+1_283-1)_(444+1_445-1)del

c.150C>G; p.(Phe50Leu)

c.1141dup

p.(Val381Glyfs*17)

c.508C>T, p.(Arg170Trp)

c.1414del

p.(His472fs)

c.707G>T, p.(Gly236Val)

c.150C>G, p.(Phe50Leu); c.1703_1705delAGA, p.(Lys568del)

c.980G>C, p.(Arg327Pro) (hom)

Age at last exam

13 d (deceased)

30 h (deceased)

19 mo (deceased at 2 y)

Died shortly after birth

17–19 years

3 mo

15 y

6–7 mo (all deceased)

Developmental delay

NR

NR

Global DD

NR

Moderate-severe learning difficulties

NA

Mild DD

NR

Neurological exam

Hypotonia, no respiratory effort

Hypotonia, no respiratory effort

NA

Hypotonia, no respiratory effort

Ataxia, muscle wasting

Central hypotonia, increased peripheral tone

Mild hypotonia

NA

Congenital cataract

+

Cloudy corneas

+

Cloudy corneas (one sibling)

One of 3 siblings

–

+

+

Hypertrophic cardiomyopathy

+

+

+

+

–

+

+

+

Cerebellar atrophy/hypoplasia

+

+

NA

+

+

+

+

NA

Elevated 3-methylglutaconate in urine

NA

NA

NA

+

NA

NA

NA

+

Others

–

Undescended testes

–

–

Hearing loss

–

GH deficiency

–

  1. Abbreviations: DD developmental delay, del deletion, dup duplication, GH growth hormone, hom homozygous, mo months, NA not available, NR not relevant, y years