title: R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.
abstract: Niemann-Pick disease (NPD) is a heterogenous group of progressive neurovisceral disorder characterised by lysosomal accumulation of sphingomyelin. NPD types A and B are caused by mutations involving sphingomyelin-phosphodiesterase-1 (SMPD1) gene and are characterised by deficiency of acid sphingomyelinase activity. We present a case of a 9-month infant with clinical manifestations intermediate between types A and B NPD and genetically illustrating a novel R542X mutation in the exon 6 of SMPD1.
authors.affiliation: Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India.
authors.forename: Aradhana
authors.initials: A
authors.lastname: Aneja
authors.forename: Aditi
authors.initials: A
authors.lastname: Sharma
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
authors.forename: Vishal
authors.initials: V
authors.lastname: Sondhi
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine / Q000235:genetics; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005451:Fluorescein Angiography; D006720:Homozygote; D006801:Humans; D007223:Infant; D052536:Niemann-Pick Disease, Type A / Q000175:diagnosis* / Q000235:genetics*; D052537:Niemann-Pick Disease, Type B / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D001120:Arginine; C112980:acid sphingomyelinase-1; C543066:SMPD1 protein, human; D013108:Sphingomyelin Phosphodiesterase