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Inter‐ and intrafamilial variability in mucolipidosis II (I‐cell disease)
Author(s) -
Beck M.,
Barone R.,
Hoffmann R.,
Kratzer W.,
Rakowsky Th.,
Nigro F.,
Fiumara A.
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03958.x
Subject(s) - mucolipidosis , dwarfism , lysosomal storage disease , age of onset , disease , medicine , pathology , biology , genetics , gene , biochemistry , enzyme
In this paper nine patients with mucolipidosis II (I‐cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.