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Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case
Author(s) -
Halsall David J.,
Halligan Eugene P.,
Elsey Terence S.,
Cox Timothy M.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199911)14:5<447::aid-humu12>3.0.co;2-1
Subject(s) - compound heterozygosity , metachromatic leukodystrophy , heterozygote advantage , biology , mutation , genetics , allele , gene , biochemistry
The majority of mutations identified in patients with Metachromatic leucodystrophy are unique to individual families. We report here a new mutation in the arylsulphatase A gene (D281Y) identified in a patient with late‐onset Metachromatic leucodystrophy. This mutation was inherited in cis with the common pseudo‐deficiency allele and in trans with the previously described I179S (250100.0008) mutation which complicated the enzymatic diagnosis of this condition. Sequence comparison shows D281 to be highly conserved amongst the arylsulphatases. The clinical features of this patient which are predominantly of a slowly progressive psychiatric and intellectual deterioration rather than rapid neurological impairment are typical of I179S compound heterozygotes. Hum Mutat 14:447, 1999. ©1999 Wiley‐Liss, Inc.