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Table 2 List of mutations in BSCL2 gene so far

From: Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

Exon cDNA Protein Phenotype References
  Missense/Nonsense   
2 c.232A>G p.Thr78Ala CGL2 [27]
2 c.263A>G p.Asn88Ser dHMN [16, 18, 28]
2 c.269C>T p.Ser90Leu dHMN, CMT2 [18, 29, 30]
2 c.269C>G p.Ser90Trp dHMN, CMT2 [22]
2 c.272T>C p.Leu91Pro CGL2 [27]
3 c.412C>T p.Arg138X CGL2 [5]
4 c.560A>G p.Tyr187Cys CGL2 [15]
4 c.565G>T p.Glu189X CGL2 [14]
5 c.634G>C p.Ala212Pro CGL2 [5, 25]
6 c.684C>G p. Tyr228X CGL2 [7]
7 c.823C>T p.Arg275X CGL2 [31]
10 c.1171C>T p.Gln391X CGL2 [27]
  Insertion   
1 c.154_155insTT p.Tyr53SerfsX39 CGL2 [7]
3 c.301_302insAA p.Met101LysfsX10 CGL2 [5]
3 c.325insA p.Thr109AsnfsX5 CGL2 [5]
6 c.782dupG p.Ile262HisfsX12 CGL2 [7]
  Deletion   
3 c.315_316delGT p.Tyr106SerfsX7 CGL2 [5]
3 c.317_321delATCGT p. Tyr106CysfsX6 CGL2 [5, 25]
5 c.636delC p.Tyr213ThrfsX20 CGL2 [5]
5 c.652_662del11 p.Ala218TrpfsX51 CGL2 [32]
  Splice-site   
IVS2 -11A>G Exon skipping Protein truncation CGL2 [33]
IVS4 +1G>A Exon skipping Protein truncation CGL2 [5]
IVS5 -2A>G Exon skipping Protein truncation CGL2 [27]
IVS5- 2A>C Exon skipping Protein truncation CGL2 [34]
IVS6 +5G>A Exon skipping Protein truncation CGL2 [5]
IVS6 -3C>G Exon skipping Protein truncation CGL2 [5, 25]
IVS6 -2A>G Exon skipping Protein truncation CGL2 [7]
  Complex rearrangements  
1 c.192_193delCCinsGGA   CGL2 [5, 25]
1 c.193delCinsGGA   CGL2 [7]
4-6 Deletion of exons 4-6   CGL2 [5]
5-6 Indel leading exons 5–6 deletion CGL2 [5]
  1. dHMN= distal motor hereditary neuropathy; CMT2 = Charcot-Marie-Tooth type 2; CGL2 = Congenital generalized lipodystrophy type 2.