. Author manuscript; available in PMC: 2024 Feb 5.

Published in final edited form as: Neurobiol Dis. 2023 Dec 16;190:106386. doi: 10.1016/j.nbd.2023.106386

Table 1.

Summary of clinical features and human iPSCs lines from SSADH deficient patients, sex-matched unaffected parental controls and CRISPR corrected lines.

Family	Severity	Genotype	Sex	Participant	Genetic variant (NM_170740.1)	Domain

001	Severe with seizures	ALDH5A1^−/−	F	Proband	c.1226G > A / c.1226G > A; p.Gly409Asp	Catalytic Domain
	−	ALDH5A1^+/−	F	Sex-matched parent	c.1226G > A / c.1226G
	−	ALDH5A1 ^corr/corr	F	CRISPR edited	c.1226G / c.1226G
002	Mild no seizure	ALDH5A1^−/−	M	Proband	c.612G > A / c.612G > A; p.Trp204Ter	NAD⁺ Binding Domain
002	−	ALDH5A1^+/−	M	Sex-matched parent	c.612G > A / c.612G	NAD⁺ Binding Domain
003	Mild no seizure Abnormal EEG	ALDH5A1^−/−	M	Proband	exon 4 c.612G > A; pTrp204* exon 9 c.1273C > T; p.Arg245* (R412X)	NAD⁺ Binding and catalytic domains
003	−	ALDH5A1^+/−	M	Sex-matched parent	exon 4 c.612G > A; pTrp204* Exon 9 c.1273C