A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms |
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Authors: | Stefano Regis Mirella Filocamo Marina Stroppiano Fabio Corsolini Francesco Caroli R Gatti |
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Institution: | (1) Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini – Largo G. Gaslini 5, I-16147 Genoa, Italy Tel.: +39-10-5636350; Fax: +39-10-3776590; e-mail: bang@mbox.ulisse.it, IT;(2) Laboratorio di Genetica Molecolare, Istituto G. Gaslini – Largo G. Gaslini 5, I-16147 Genoa, Italy, IT |
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Abstract: | A 9-bp deletion (2320del9) was detected in the arylsulfatase A genes of a patient with late infantile metachromatic leukodystrophy
and of a patient with nonprogressive neurological symptoms and very low arylsulfatase A activity. Both patients are heterozygous
for the deletion, which involves codons 406–408 and causes loss of a Ser-Asp-Thr tract in the predicted protein. In both patients
the 9-bp deletion lies in a pseudodeficiency allele. The patient with metachromatic leukodystrophy carries the common 459
+ 1G > A mutation in the other allele. The other patient is homozygous for the pseudodeficiency allele, and consequently is
a compound heterozygote for a metachromatic leukodystrophy allele and a pseudodeficiency allele. We hypothesize that the compound
heterozygosity predisposes to the development of nonprogressive neurological symptoms in the presence of additional, still
unknown, genetic or nongenetic factors.
Received: 18 April 1997 / Accepted: 16 August 1997 |
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