. 2021 Dec 4;74(1):1–6. doi: 10.1016/j.ihj.2021.11.185

Table 1.

Consolidated Indian FH genetic Studies with mutations in LDLR, ApoB, PCSK9 and other non-classical FH genes.

REFERENCES	SAMPLE SIZE	GENES SCREENED	METHOD	LDLR	ApoB	PCSK9	Non-classical genes
ASHAVAID ET AL., 2000, MUMBAI [21, 22]	25 Hypercholesterolemic patients	LDLR Apo B (exon 26)	Single-stranded conformation polymorphism (SSCP) and Hetroduplex Analysis (HAD)	EXON 3 ins397G	No mutation Found	_	_
				EXON 4 ins242G

KULKARNI ET AL, 2011, KARNATAKA [23]	24 FH patients and 10 normal controls	LDLR	Sanger sequencing	Exon 3 g.18298A>C,	_	_
				Exon 10 g.29209A>G
				&
				g.29372_29373insC in Exon 10 was present in all 24 patients
ARULJYOTHI ET AL., 2016 TAMILNADU [24]	30 out of 300 CAD patients UK-Simon Broome criteria	- exons and exon-intron boundaries of LDLR gene, - ApoB (only exon 26) - PCSK9 (only exon 7)	High Resolution Melt (HRM) curve analysis	EXON 4 c.694 + 8_694 + 18del	No mutation Found	INTRON7,c.1180 + 17C>T
				EXON 6
				c.862G>A
				EXON 7
				c.966 C>T
				EXON 10
				c.1399_1400delins AC>TA
				EXON 12
				c.1845+2T>C
SETIA ET AL., 2016 DELHI [25]	16 Homo FH from 11 families	- entire LDLR gene - ApoB - two exons 26 & 29 - PCSK9 – Exon 7	Sanger Sequencing and Multiplex ligation-dependent probe amplification (MLPA)	EXON 4	No mutation Found	EXON 7 c.1075G>A
				c.530 C>T, c. 590 G>A

				EXON 8
				c.1070_1070delA

				EXON 10
				c.1418T>A

				EXON 15
				c.2286_2286 delG

				EXON 16
				c. 2370_2389 + 20 del
				c.2389G > A

				EXON 17
				c.2416_2417insG
				c.2547 + 5 G>A

				EXON 12 deletion
SETIA ET AL., 2020 DELHI [26]	100 unrelated probands (63 males and 37 females)	LDLR, ApoB 100 (exons 26 and 29), PCSK9, and APOE genes.	Sanger sequencing and multiplex ligation-dependent probe amplification technique. Targeted next-generation sequencing (NGS) panel of 18 genes involved in lipid metabolism	5′UTR	EXON 8 c.897T>G EXON 10 c.1777G>C EXON 16 c.2335A>T EXON 26 c.7619G>T; c.8462C>T; c.10025C>T EXON 29 c.13538T>G; c.12382G>A; c.12940A>G ^ap.Phe299Leu, ^ap.Phe4513Cys, ^ap. Ile779Phe,	EXON 1 c.42_43insCTG, EXON 7 c.1075G>A EXON 9 c.1487G>A, c.1486C>T	ABCA1, Exon 4; c.254C>T, Exon 15; c.1913G>A, Exon 16; c.2328G>C, Exon 19; c.2726G>A, Exon 24; c.3515A>G ABCG5, Exon3; c.511G>A ABCG8, Exon 11; p.Gly574Arg LDLRAP1, Exon7; c.712C>T LPL Exon2; c.106G>A; ∗p.Ser373Arg
				c.-139C>T
				EXON 2
				c.91G>A
				EXON 4
				c.325T>A, c.346T>C, c.413C>G, c.519C>G, c.530C>T, c.590G>A
				EXON 5
				c.757C>T
				EXON 8
				c.1061A>G, c.1066G>T, c.1070_1070delA
				EXON 9
				c.1285G>A, c.1322T>C
				EXON 10
				c.1387_1387delT, c.1418_1419delinsAA,
				INTRON 10
				c.1587-1G>A
				EXON 11
				c.1618G>A, c.1634G>A
				INTRON 11
				c.1706-10G>A
				EXON 12
				c.1783C>T,
				Exon 12 Deletion
				INTRON 12
				c.1845+2delT
				EXON 13
				c.1961T>C,
				EXON 14
				c.1998G>A, c.2072C>A
				EXON 15
				c.2286_2286delG,
				c.2242G>A
				EXON 16 c.2370_2389 + 20del, c.2389G>A
				EXON 16–18
				Large Deletion
				EXON 17
				c.2396T>G, c.2416_2417insG
				INTRON 17
				c.2547 + 5 G>A
REDDY ET Al., 2021 [27]	50 FH cases and 50 Healthy Controls	- entire PCSK9 gene - Exon 3, 4 and 9 of LDLR gene	HRM	EXON 3 c.301G>A, c.313+1G>C EXON 4 c.530C>T c.447T>C		EXON 1 c.-64C>T EXON 5c.720C>T c.658-36G>A c.799 + 64C>A; c.799+3A>G; c.1026A>G EXON7c.1380A>G EXON9c.1420G>A

Novel.