Table 1.

Pathogenic variants of AGPAT2 gene described in the homozygote state.

Homozygous variants
Exon/intron	cDNA	Protein	Number of cases	References
	Missense/nonsense
Exon 1	c.134 C > A	Ser45X	1	(22)
Exon 1	c.142 C > T	Cys48Arg	2	(23)
Exon 1	c.144 C > A	Cys48X	3	(24)
Exon 2	c.194 G > A	Trp65X	1	(19)
Exon 2	c.199 G > A*	Val67Met	1	(25, 26)
Exon 2	c.202 C > T	Arg68X	14	(9, 19, 24, 27, 28)
Exon 2	c.216 C > G	Tyr72X	1	(28)
Exon 2	c.259 C > T	Gln87X	1	(29)
Exon 2 Intron 3	c.299 G > A IVS3-1G > C	Ser100Asn** Asn164fsX249**	5	(30–32)*
Exon 3	c.335 C > T	Pro112Leu	2	(33, 34)
Exon 3	c.430 C > T	Gln144X	1	Current study
Exon 3	c.475 C > T	Arg159Cys	1	Current study
Exon 4	c.514 G > A	Glu172Lys	5	(19, 22, 35, 36)
Exon 5	c.643A > T***	Lys216X	5	(19, 24, 35, 37)****
Exon 6	c.676 C > T	Gln226X	1	(19)
Exon 6	c.685 G > T	Glu229X	5	(22, 24)
	Deletion
Exon 2	268delC	Arg90ValfsX15	1	(24)
Exon 3	c.369_372deLGCTC	Leu124SerfsX26	1	(38)
Exon 3-4	317-588del (Ex 3-4del)	Gly106fsX188	24	(9, 19, 37, 39, 40)
Exon 6	755TGAGGACCA del	252delMetArgThr	1	(30)
Intron 4-5	12562_12613 del	Val197GlufsX32	1	(41)
Intron 5	IVS5-2A>C	221delGlyThr	2	(9, 24)
	Insertion
Exon 2	258_259insGGCTG	Gln87GlyfsX	1	(42)
Exon 3	377insT	Leu126fsX146	1	(30)
	Deletion/insertion
Exon 6	667_705delinsCTGCG	Val223LeufsX19	2	(24)
	Splice-site
Intron 2	IVS2+1G > T	–	2	(24)
Intron 3	IVS3-1G > C	delLeu165-Gin196	2	(19, 35)
Intron 3	IVS3-1G > C	Asn164fsX249	3	(32)
Intron 4	IVS4-2A > G	Gln196fsX228	23	(9, 28, 30, 35, 37)
Intron 4	IVS4-2A > G	Phe109fsX452	16	(19)
Intron 5	IVS5+2T > G	Phe109fsX452	2	(19)

^*Originally described as c.119 G > A.

^**Double homozygosity.

^***Originally described as 712 A > T.

^****Originally described as 645 A > T.