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Analysis of Sanfilippo A gene mutations in a large pedigree
Author(s) -
Di Natale P,
Villani GRD,
Di Domenico C,
Daniele A,
Dionisi Vici C,
Bartuli A
Publication year - 2003
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 - 10.1034/j.1399-0004.2003.00053.x
Subject(s) - missense mutation , genetics , mutation , biology , genotype , gene , disease , phenotype , mucopolysaccharidosis , gene mutation , medicine , pathology , biochemistry
Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease‐causing and helped to clarify the genotype–phenotype correlation. In this report we describe a large pedigree where the mutations have been identified in two second cousins: one with severe disease (E369K/R433Q) and the other with a mild form of the illness (E369K/P128L). This study places R433Q as a severe mutation underlying Sanfilippo A disease.