Summary
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.
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Oohira, T., Nagata, N., Akaboshi, I. et al. The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: Possible linkage between HLA and the neuraminidase deficiency gene. Hum Genet 70, 341–343 (1985). https://doi.org/10.1007/BF00295374
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DOI: https://doi.org/10.1007/BF00295374