Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China

BMC Medical Genomics

Table 1 Clinical data and mutations identified in the 16 FALS patients

Patient^a	Gender	Birthplace (provinces)	AAO (y)	Onset site	Duration (months)	Genetic variant	ACMG
F1	M	Guangdong	50	Upper limb	48 (alive)	TARDBP, c.892G > A, p. Gly298Ser	P
F2	F	Guangdong	50	Lower limb	15	TARDBP, c.892G > A, p. Gly298Ser	P
F3-1	F	Guangdong	62	Upper limb	13	TARDBP, c.892G > A, p. Gly298Ser	P
F3-2	M	Guangdong	54	Bulbar	20	TARDBP, c.892G > A, p. Gly298Ser	P
F4	F	Guangdong	73	Upper limb	10	TARDBP, c.892G > A, p. Gly298Ser	P
F5	F	Guangdong	49	Bulbar	11	TARDBP, c.892G > A, p. Gly298Ser	P
F6	F	Guangdong	53	Upper limb	20	TARDBP, c.892G > A, p. Gly298Ser	P
F7	M	Guangdong	46	Bulbar	14	TARDBP, c.892G > A, p. Gly298Ser	P
F8	F	Guangdong	38	Lower limb	NA	SOD1, c.425G > C, p. Gly142Ala	P
F9	F	Sichuan	43	Bulbar	NA	FUS, c.1561C > T, p. Arg521Cys	P
F10	F	Guangxi	60	Bulbar	NA	TARDBP, c.1035C > A, p. Asn345Lys	LP
F11	M	Guangdong	33	Lower limb	NA	VCP, c.463C > T, p. Arg155Cys	P
F12	F	Hunan	50	Upper limb	NA	SOD1, c.335G > A, p. Cys112Tyr	P
F13	M	Guangdong	40	Upper limb	12 (alive)	TARDBP, c.1132A > G, p. Asn378Asp	LP
F14	F	Hunan	32	Upper limb	NA	SOD1, c.335G > A, p. Cys112Tyr	P
F15	F	Guangdong	66	Upper limb	NA	Not identified	-

NA stands for “not available.”, LP Likely Pathogenic, AAO Age at onset. Patient^a, The bolded numbers in parentheses represent our FALS patients carrying the G298S mutation. F3-1 and F3-2: two siblings of the family 3 (II-2 and II-3)

ISSN: 1755-8794