Table 1.
Common variants in different LSDs across the Indian population.
| Disease | Common variant | Subjects | Region | Reference |
|---|---|---|---|---|
| Gaucher disease | L444P (c.1448T>C) | 21/33 patients | Pan-India | Ankleshwaria et al. 201436 |
| L444P (c.1448T>C) R535C (c.1603C>T) |
100 patients 60% 7% |
Pan-India | Sheth et al. 20198 (DHR-ICMR-NTF-LSD) | |
| Niemann Pick disease A/B | p.R542∗ p.R418∗ |
60 families 21.67% 6.6% |
Pan-India | Ranganath et al. 201637 (DHR-ICMR-NTF-LSD) |
| p.R542∗ | 3/40 patients (7.5%) | Pan-India | Deshpande et al. 202138 | |
| MLD | c.931C>T | 14/122 alleles | Pan-India | Narayanan et al. 201839 |
| GM1 gangliosidosis | c.75+2InsT | 50 families 14% (allele frequency) |
Pan-India | Bidchol et al. 201540 |
| MPS I | p.Arg619∗ p.Ala75Thr |
30 patients 25% 20% |
Pan-India | Uttarilli et al. 201641 |
| MPS II | p.Gly374sp p.Arg88His |
30 patients 40% 20% |
Pan-India | Uttarilli et al. 201641 |
| p.Arg88His | 6/71 patients (8.4%) | Pan-India | Agrawal et al. 202214 (DHR-ICMR-NTF-LSD) | |
| MPS IVA | p.Ser287Leu p.Phe216Ser p.Asn32Thr p.Ala291Ser |
68 families 8.82% 7.35% 6.61% 5.88% |
Northern and Southern part of India | Bidchol et al. 201442 |
| p.Pro77Arg | 14/23 families | Gujarat | Sheth et al. 20227 (DHR-ICMR-NTF-LSD) | |
| MPS VI | p.W450C (c.1350 G>C) p.L98R: Founder variant |
4/14 families 2/8 families |
Pan-India South-India |
Uttarilli et al. 201543 Mathew et al. 201544 |
| Tay-Sachs disease | p.E462V c.1278insTATC |
6/15 families 7/34 patients |
Gujarat Pan-India |
Mistri et al., 201220 Sheth et al. 201421 (DHR-ICMR-NTF-LSD) |
| Sandhoff disease | p.R284X | 4/19 patients | Pan-India | Tamhankar et al. 201645 |
| Mucolipidosis II/III | c.3503_3504delTC | 64 patients 28.35% (allele frequency) |
Pan-India | Pasumarthi et al. 202013 |
| Pompe disease (Infantile onset) | c.1942G>A (p.Gly648Ser) c.1A>G (p.Met1?) c.2783A>G (p.Tyr928Cys) c.1003G>A (p.Gly335Arg) |
10/96 alleles 8/96 alleles 7/96 alleles |
Pan-India | Gupta et al. 202046 |
| Batten disease (NCL-I) | c.713C>T (p.Pro238Leu) | 12 patients 44% |
Southern India | Sheth et al. 201847 (DHR-ICMR-NTF-LSD) |
| Batten disease (NCL-II) | c.616C>T (p.Arg206Cys) | 22 patients 26% |
Southern India | Sheth et al. 201847 (DHR-ICMR-NTF-LSD) |
∗
DHR-ICMR-NTF-LSD: Indian Council of Medical Research-Department of Health Research-National Task Force for Lysosomal storage disorders.