5682
Asmaa Fawzy Abdel Aleem Moustafa
Mutational Study of NPC1 Gene in a
Sample of Niemann-Pick Type C
Patients
Niemann-Pick type C, autosomal recessive,
lysosomal storage disorder, NPC1, NPC2.
Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disorder caused by a biallelic mutation in either of NPC1 (>95% of cases) or NPC2 gene in the remainder. This study aimed to characterize certain NPC1 mutation hotspot residues (855-1098) and (1038-1253) in 15 unrelated Egyptian patients with NPC as a provisional clinical diagnosis. Molecular analysis of NPC1 (exons 17-25) confirmed 15 Mutant alleles out of 30 studied alleles. They included two homozygous missense novel variants p.Ser1169Arg and p.Ser1197Phe in the amino acid residues (1038– 1253), in addition to four previously reported mutations in the cysteine-rich luminal loop (855–1098) classified as, a nonsense homozygous mutation p.Arg958*, a heterozygous missense mutation p.Gly910Ser and two homozygous frameshift mutations (p.Ala927Glyfs*38, p.Cys1011*).
2020
Ph.d
Cairo
Science