The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene.
The possible genetic linkage between HLA and neuraminidase deficiency was studied in a female patient with combined abnormalities of the infantile form of sialidosis type II and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency, and six members of her family. Her parents were consanguineous. The patient has the homozygous HLA haplotypes, TS-1, Cw3, DRw9. Four of the tested family members, including a distant male relative with congenital adrenal hyperplasia, were heterozygous of this HLA complex, and the neuraminidase activities in their skin fibroblasts and/or lymphocytes showed values between those of the patient and controls (25-48%), suggesting a carrier state of sialidosis. This indicates that the neuraminidase deficiency gene, similar to the 21-hydroxylase deficiency gene, is closely linked to the HLA genotype and is located on chromosome 6.
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics* / Q000276:immunology; D000328:Adult; D002675:Child, Preschool; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009439:Neuraminidase / Q000172:deficiency* / Q000235:genetics; D010375:Pedigree; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D006680:HLA Antigens; D013255:Steroid 21-Hydroxylase; D009439:Neuraminidase