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Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiency
Author(s) -
O'Brien John S.,
Gugler E.,
Giedion A.,
Wiessmann U.,
Herschkowitz N.,
Meier C.,
Leroy J.
Publication year - 1976
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.1399-0004.1976.tb01603.x
Subject(s) - abnormality , galactosidases , dysplasia , beta (programming language) , mutation , biology , medicine , endocrinology , beta galactosidase , genetics , gene , escherichia coli , psychiatry , computer science , programming language
A 14‐year‐old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid β‐galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM 1 β‐galactosidase activity averaged 7 % of the normal mean while asialofetuin β‐galactosidase and 4‐methylumbelliferyl‐β‐galactosidase averaged 1.4 % and 3.5 %, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50 % of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM 1 β‐galactosidase.