Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands

Peter L. Rady, Sankar Surendran, Ahn T. Vu, Judy C. Hawkins, Kimberlee Michals-Matalon, Stephan K. Tyring, Joy Merren, Alla K. Kumar, Reuben Matalon

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Sanfilippo A syndrome is an autosomal recessive lysosomal storage disease. This disease was reported in the Cayman Islands population with carrier frequency of 1/7 to 1/10 in the West Bay district of Grand Cayman. The carrier testing of Sanfilippo A disease for families at risk was carried out using the thermal characteristics of sulfamidase activity. In the present study, a search for mutations in the sulfamidase gene in an index family was performed. In addition, 77 individuals, relatives of children with Sanfilippo A syndrome, were also studied by single-strand conformation polymorphism (SSCP), restriction fragment-length polymorphism (RFLP) analyses, and sequencing. A single mutation, G746A (R245H), was found in the family, with the patient being homozygous and both parents and 1 of the 3 siblings being carriers. Among the 77 family members of the patient with Sanfilippo syndrome, the same mutation was found among carriers of the disease. The finding of a single mutation supports the idea of a founder effect, which facilitates accurate carrier identification of Sanfilippo A syndrome in the population of Cayman Islands.

Original languageEnglish (US)
Pages (from-to)211-215
Number of pages5
JournalGenetic Testing
Volume6
Issue number3
DOIs
StatePublished - Jan 1 2002

ASJC Scopus subject areas

  • Genetics(clinical)

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