Table 2

List of mutations in BSCL2 gene so far
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]

dHMN= distal motor hereditary neuropathy; CMT2 = Charcot-Marie-Tooth type 2; CGL2 = Congenital generalized lipodystrophy type 2.

Rahman et al.

Rahman et al. Diagnostic Pathology 2013 8:78   doi:10.1186/1746-1596-8-78

Open Data