• Huma Arshad Cheema, Iqra Ghulam Rasool, Muhammad Nadeem Anjum, and Muhammad Yasir Zahoor.
• Dr. Huma Arshad Cheema, MBBS, MCPS, DPGN. Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & The Institute for Child Health, Lahore, Pakistan.
• Pak J Med Sci. 2020 Mar 1; 36 (3): 479-484.

ObjectiveGenetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients.MethodsWe sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-Pick disease through targeted exome sequencing. Genetic variants mapping and their protein predictions were evaluated using different bioinformatics tools and clinical phenotypes were correlated. The study was conducted from January 2018 to March 2019 at The Children's Hospital Lahore.ResultsWe have mapped five different mutations in SMPD1 gene of enrolled patients with a novel homozygous missense variant (c.1718G>C) (p.Trp573Ser) in one patient. A missense mutation (c.1267C>T) (p.His423Tyr) has been identified in three unrelated patients. A nonsense mutation (c.1327C>T) (p.Arg443Term) and one missense mutation (c.1493G>A) (p.Arg498His) mapped in one patient each. A compound heterozygous mutation has been mapped in one patient (c.740G>A) (p.Gly247Asp); (c.1493G>A) (p.Arg498His). Pathogenic effect of novel variant has been predicted through in-silico analysis and has not been reported in general overall population in the globe.ConclusionThis is the first report of genetic demographic assessment of Niemann-Pick disease in Pakistan. The mapped mutations would be helpful to build a disease variants algorithm of Pakistani population. This will be used for determining disease clinical magnitude along with provision of genetic screening services in affected families.Copyright: © Pakistan Journal of Medical Sciences.

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