Analysis of Sanfilippo A gene mutations in a large pedigree.
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Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A
Analysis of Sanfilippo A gene mutations in a large pedigree.
Clin Genet. 2003 Apr;63(4):314-8. doi: 10.1034/j.1399-0004.2003.00053.x.
- PubMed ID
- 12702166 [ View in PubMed]
- Abstract
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.