Subjects
We identified two consanguineous families NMD02 and ID01 (BY0084)
(Figure 1), in which affected individuals had a Mucolipidosis II
alpha/beta like syndrome (OMIM#252500). Clinical analyses involved
complete blood counts and radiographs for two affected individuals III:9
and III:11 of family NMD02 and affected child IV:5 of ID01. Morning
urine samples were collected from three affected III:9, III:10, III:11
and two unaffected individuals II:3, III:3 of family NMD02 for
qualitative measurements of glycosaminoglycan levels by Berry spot test.
Briefly the urine sample was applied to a filter paper and air dried.
Then toluidine blue O was applied and development of purple color was
regarded as presence of GAGs in urine. Lysozyme enzymes from dried blood
were measured for individual IV:5 of family ID01. Blood samples were
collected from all participants for genetic studies and the DNA was
extracted by a standard protocol.