ArticleIranian journal of pediatrics2013
New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report.
Article in Iranian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center.Molecular genetics and metabolism reports · 2026Article
- Article
- Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.Iranian journal of child neurology · 2019Article
- Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation inMedical journal of the Islamic Republic of Iran · 2019Article
- Anesthetic Management in a Child With Niemann-Pick Disease.Iranian journal of pediatrics · 2016Article
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Authors and funding
3 authors at 1 institution in 1 country.
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Abstract
objectiveNIEMANN PICK DISEASE (NPD) TYPE A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of the SMPD1 gene encoding sphingomyelinase. Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver, which in turn causes dysfunction or damage of tissue.
methodsWe report firstly a 2.5 year old boy with NPA in southwest Iran. Initially, the diagnosis was resulted on the basis of clinical symptoms. The genomic DNA of the suspected individual was subjected to exon sequencing of the SMPD1 gene. According to the human reference sequence NM_000543.4, a novel single guanine deletion resulting in a frameshift mutation (p.Gly247Alafs*9) was observed in the SMPD1 gene that might be causative for the outcome of the disease.
findingsThe present report is the first molecular genetics diagnosis of the NPA in southwest Iran. The detected deletion in the SMPD1 gene is remarkable because of its novelty.
conclusionDespite similar morbidity SGA infants exhibited higher lethal complication rates following delayed meconium passage compared to AGA infants.
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23724191PMC3663321W2133982746What OpenQuestion holds
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