Table 1.

Genetic findings in individuals with POLRMT variants.

ID	cDNA (NM_005035.3) protein (NP_005026.3)	Minor Allele Frequency (gnomAD)	CADD score	Age-at-onset/ Clinical course	Ethnicity
Family 1 Patient 1a female	c.1696C > T, p.Pro566Ser c. 2608G > A, p.Asp870Asn c.3578C > T, p.Ser1193Phe (recessive)	2.0 × 10−3 3.6 × 10−3 1.61 × 10−3	14.93 16.0 15.17	1y/Alive 16y	Dominican Mixed Ancestry
Family 2 Patient 2a,b female	c.748C > G, p.His250Asp c.2225_2242del, p.Pro742_Pro747del (recessive)	1.81 × 10−4 1.69 × 10−4	21.7 n/a	Birth/Alive 19y	Northern European
Family 3 Patient 3a,c male	c.2641-1G > C, p.Gly881_Lys883del (dominant)	9.49 × 10−6	n/a	28y/Alive 57y	British
Family 4 Patient 4a male	c.1832C > T, p.Ser611Phe (de novo dominant)	Ø	25.3	10m/Alive 3y	North American
Family 5 Patient 5a male	c.1923C > G, p.Phe641Leu (recessive)	4.21 × 10−6	16.02	1y/Alive 10y	Iraniand
Family 6 Patient 6a female	c.2775C > A, p.Cys925* c.2428C > T, p.Pro810Ser (recessive)	1.28 × 10−4 1.46 × 10−3	53 24.8	Birth/Alive 14y	Northern European
Family 7 Patient 7a male	c.445C > T, p.Gln149* c.3037C > T, p.Arg1013Cys (recessive)	4.01 × 10−6 Ø	35 29.4	Early 40’s/Alive 59y	Italian ancestry
Family 7 Patient 8a male	c.445C > T, p.Gln149* c.3037C > T, p.Arg1013Cys (recessive)	4.01 × 10−6 Ø	35 29.4	Early 40’s/Alive 72y	Italian ancestry

^ainvestigated by whole-exome sequencing;

^binvestigated by mitochondrial gene panel;

^cinvestigated by whole genome sequencing;

^dconsanguineous parents; Ø – variant absent in gnomAD.