Volume 12, Issue 3 (Vol.12 No.3 Oct 2023)                   rbmb.net 2023, 12(3): 386-392 | Back to browse issues page

XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Alipouran F, Ghayoor Karimiani E, Khayatzadeh J. Evaluation of the Genetic Background of Patients with Niemann-Pick Disease. rbmb.net 2023; 12 (3) :386-392
URL: http://rbmb.net/article-1-1193-en.html
Department of Biology, Mashhad branch, Islamic Azad University, Mashhad, Iran & Next Generation Genetic Polyclinic, Mashhad, Iran.
Abstract:   (770 Views)
Background: Congenital liver disease refers to a group of heterogeneous diseases from a clinical genetic point of view. The most crucial features are hepatosplenomegaly and elevated liver enzymes. This study aims to identify genetic variants causing the disease in three Iranian families with congenital liver disease using molecular techniques.

Methods: Patients were referred to Next Generation Genetic Polyclinic (NGGC) in Mashhad after confirmed congenital liver disease diagnosis by gastroenterologists. Following informed consent signed by participants, DNA was extracted from blood samples. Whole exome sequencing (WES) was performed for three probands. After the analysis of raw data, candidate variants were confirmed in the patients and their parents.

Results: We have found the possible disease-causing variant as the c.1718G>C variant (p. Trp573Ser) in the SMPD1 gene in the F-1 patient and c.1718G>C (p. Trp573Ser) in the SMPD1 gene in the F-3 patient. Moreover, we have found the c.3175C>T variant (p. Arg1059Ter) in the NPC1 gene in the F-2 patient.

Conclusions: In this study, disease-causing variants were identified in three probands suspected of Niemann-Pick disease. Such results show the relatively high power of molecular techniques to assist clinicians with disease management, therapeutic strategies, and preventive options such as preimplantation genetic diagnosis and prenatal diagnosis.
Full-Text [PDF 954 kb]   (353 Downloads)    
Type of Article: Original Article | Subject: Molecular Biology
Received: 2023/06/12 | Accepted: 2023/09/15 | Published: 2024/02/25

References
1. Jafar Sameri M, Belali R, Neisi N, Noei Razliqi R, Mard SA, Savari F, Azandeh SS. Sodium Hydrosulfide Modification of Mesenchymal Stem Cell-Exosomes Improves Liver Function in CCL4-Induced Hepatic Injury in Mice. Rep Biochem Mol Biol. 2023;11(4):644-655. [DOI:10.52547/rbmb.11.4.644] [PMID] []
2. Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
3. Lynn R, Terry Rd. Lipid Histochemistry and Electron Microscopy in Adult Niemann-Pick Disease. Am J Med. 1964;37:987-94. [DOI:10.1016/0002-9343(64)90139-1] [PMID]
4. Schneider EL, Pentchev PG, Hibbert SR, Sawitsky A, Brady RO. A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. J Med Genet. 1978;15(5):370-4. [DOI:10.1136/jmg.15.5.370] [PMID] []
5. Yan X, Lukas J, Witt M, Wree A, Hübner R, Frech M, et al. Decreased expression of myelin gene regulatory factor in Niemann-Pick type C 1 mouse. Metab Brain Dis. 2011;26(4):299-306. [DOI:10.1007/s11011-011-9263-9] [PMID]
6. Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease. Mol Genet Metab. 2017;120(1-2):27-33. [DOI:10.1016/j.ymgme.2016.12.008] [PMID] []
7. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet. 2002;71(6):1413-9. [DOI:10.1086/345074] [PMID] []
8. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis. 2007;30(5):654-63. [DOI:10.1007/s10545-007-0632-9] [PMID]
9. Zheng Z, Cheng C, Zhao W, Feng Q, Li C, Lou T. Case Report Renal failure and ascites in a patient with Niemann-Pick disease: case report and literature review. Int J Clin Exp Me. 2016;9:4800-4.
10. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16. [DOI:10.1186/1750-1172-5-16] [PMID] []
11. Uc EY, Wenger DA, Jankovic J. Niemann-Pick disease type C: two cases and an update. Mov Disord. 2000;15(6):1199-203. https://doi.org/10.1002/1531-8257(200011)15:6<1199::AID-MDS1020>3.0.CO;2-1 [DOI:10.1002/1531-8257(200011)15:63.0.CO;2-1] [PMID]
12. Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P. Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis. 2014;9:140. [DOI:10.1186/s13023-014-0140-6] [PMID] []
13. Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, Madden TL. Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics. 2012;13:134. [DOI:10.1186/1471-2105-13-134] [PMID] []
14. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308-11. [DOI:10.1093/nar/29.1.308] [PMID] []
15. Johnson M, Zaretskaya I, Raytselis Y, Merezhuk Y, McGinnis S, Madden TL. NCBI BLAST: a better web interface. Nucleic Acids Res. 2008;36(Web Server issue):W5-9. [DOI:10.1093/nar/gkn201] [PMID] []
16. Maglott D, Ostell J, Pruitt KD, Tatusova T. Entrez Gene: gene-centered information at NCBI. Nucleic Acids Res. 2005;33(Database issue):D54-8. [DOI:10.1093/nar/gki031] [PMID] []
17. Nasereddin A, Ereqat S. Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report. J Med Case Rep. 2018;12(1):272. [DOI:10.1186/s13256-018-1805-x] [PMID] []
18. Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, et al. NPC1
19. gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet. 1999;105(1-2):10-6. [DOI:10.1007/s004399900059] [PMID]
20. Liscum L, Klansek JJ. Niemann-Pick disease type C. Curr Opin Lipidol. 1998;9(2):131-5. [DOI:10.1097/00041433-199804000-00009] [PMID]
21. Levran O, Desnick RJ, Schuchman EH. Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A. 1991;88(9):3748-52. [DOI:10.1073/pnas.88.9.3748] [PMID] []
22. Irun P, Mallén M, Dominguez C, Rodriguez‐Sureda V, Alvarez‐Sala L, Arslan N, et al. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. Clin Genet. 2013;84(4):356-61. [DOI:10.1111/cge.12076] [PMID]
23. Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat. 2009;30(7):1117-22. [DOI:10.1002/humu.21018] [PMID] []
24. Ebrahimzadeh-Vesal R, Hosseini SK, Rezakhanlu F, Derakhshandeh-Peykar P. A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report. Rep Biochem Mol Biol. 2013;2(1):52-5.

Add your comments about this article : Your username or Email:
CAPTCHA

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2015 All Rights Reserved | Reports of Biochemistry and Molecular Biology

Designed & Developed by : Yektaweb