Table 1.

Ancestry, pedigree structure, consanguinity status and sequence alterations in ADAR1 mutation–positive families in an AGS cohort

Family	Ancestry	Individuals tested	Consanguinity	Nucleotide alteration	Exon	Amino-acid alteration
AGS81	Norwegian	3A, M, F	−	c.[577C>G]+[2675G>A]	2, 9	p.[Pro193Ala]+[Arg892His]
AGS93	Italian	1A, M, F	−	c.[577C>G]+[2608G>A]	2, 8	p.[Pro193Ala]+[Ala870Thr]
AGS107	Pakistani	2A, M, F	+	c.3337G>C (hom)	14	p.Asp1113His
AGS150	Brazilian	1A, M, F	−	c.3019G>A (het, de novo)	11	p.Gly1007Arg
AGS219	Pakistani	1A	+	c.3335A>T (hom)	14	p.Tyr1112Phe
AGS228	Indian	1A, M, F	−	c.2997G>T (hom)	11	p.Lys999Asn
AGS251	White British	1A, M	−	c.[577C>G]+[2615T>C]	2, 8	p.[Pro193Ala]+[Ile872Thr]
AGS327	Italian	1A	−	c.[577C>G]+[1076_ 1080del]	2, 2	p.[Pro193Ala]+[Lys359Argfs*14]
AGS430	Spanish	2Aa, M, F	−	c.[577C>G]+[2675G>A]	2, 9	p.[Pro193Ala]+[Arg892His]
AGS474	European-American	1A, M, F	−	c.3019G>A (het, de novo)	11	p.Gly1007Arg

A, affected individual; M, mother; F, father; het, heterozygous; hom, homozygous.

^aIdentical twins.