Biallelic Variant in LYSET Associated With Mucolipidosis II-Like Phenotype.

Abstract excerpt

Dysostosis multiplex is a skeletal dysplasia often associated with lysosomal storage disorders (LSDs) such as mucopolysaccharidoses (MPS) and mucolipidoses (ML). Recently, pathogenic variants in the LYSET gene have been linked to a novel disorder resembling mucolipidosis types II/III (MLII/III). We report two Iranian brothers with homozygous pathogenic variants in LYSET (c.197dupA) who exhibit clinical,...

Topics

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• Alleles
• Homozygote
• Mucolipidoses
• Mutation
• Phenotype