Table 1.

Summary of NARS1 Variants and Clinical Features of Affected Individuals

Variant: Nucleotide, Protein	c.1600C>T, p.Arg534∗	c.1525G>A, p.Gly509Ser	c.965G>T, p.Arg322Leu	c.1633 >T, p.Arg545Cys	c.32G>C, p.Arg11Pro	c.50C>T, p.Thr17Met	c.1049T>C c.1264G>A, p.Leu350Pro p.Ala422Thr	c.1067A>C c.203dupA, p.Asp356Ala p.Met69Aspfs∗4	c.268 C>T c.394G>T, p.Arg90∗ p.Gly132Cys	c.1376 C>T, c.178 A>G, p.Thr459Ile, p.Lys60Glu
Variant type	de novo heterozygous	de novo heterozygous	de novo heterozygous	homozygous	homozygous	homozygous	compound heterozygous	compound heterozygous	compound heterozygous	compound heterozygous
Inheritance	AD de novo	AD de novo	AD de novo	AR	AR	AR	AR	AR	AR	AR
Family	1–6	7	8	9–15	16	17	18	19	20	21
Affected Individual(s)	1–6	7	8	9–23	24–25	26	27–28	29–30	31	32
Ethnicity/country of origin	European	UK	European	Pakistan/North India	Kosovo	Libya	German	Turkey	Canada	USA
Age at onset	birth	birth	birth	childhood	childhood	birth	birth	birth	birth	childhood
Consanguinity	no	no	no	yes	no	yes	No	no	no	no
Presentation	severe GDD	severe GDD	severe GDD	severe GDD	seizures	seizures	mod GDD	mod GDD	severe GDD	severe GDD
ID	yes	yes	yes	yes	yes	yes	yes	yes	yes	yes
Microcephaly	yes	no	NA	yes	yes	yes	yes	yes	yes	yes
Dysmorphic	yes	yes	yes	yes	no	NA	no	no	yes	no
Seizures Affected Individuals	yes 1, 2, 4, 5, 6	yes	yes	yes 9, 14, 15, 18, 19, 21, 22, 23	yes all individuals	yes	yes 27	yes all individuals	yes	yes
Spasticity Affected Individuals	yes 3, 4, 6	no	yes	no hypotonia in 9, 10, 16, 17	yes 24	na	no hypotonia	na	no hypotonia	yes
Neuropathy Affected Individuals	Yes 1, 2, 5	NA	NA	yes 9, 10, 20	NA	NA	yes	NA	NA	NA
Ataxia Affected Individuals	yes all individuals	NA	Yes	yes 9–12, 21	NA	NA	yes	NA	yes	yes

AD = autosomal dominant, AR = autosomal recessive, GDD = global developmental delay, ID = intellectual disability Mod = moderate, NA = not available.