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 journalArticle

1 Citation (Scopus)

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 - Sep 2002

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Mucopolysaccharidosis III
West Indies
Mutation
Lysosomal Storage Diseases
Founder Effect
Alligators and Crocodiles
Restriction Fragment Length Polymorphisms
Population
Siblings
Hot Temperature
Parents
Genes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Rady, P. L., Surendran, S., Vu, A. T., Hawkins, J. C., Michals-Matalon, K., Tyring, S. K., ... Matalon, R. (2002). Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. Genetic Testing, 6(3), 211-215. https://doi.org/10.1089/109065702761403388

Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. / Rady, Peter L.; Surendran, Sankar; Vu, Ahn T.; Hawkins, Judy C.; Michals-Matalon, Kimberlee; Tyring, Stephan K.; Merren, Joy; Kumar, Alla K.; Matalon, Reuben.

In: Genetic Testing, Vol. 6, No. 3, 09.2002, p. 211-215.

Research output: Contribution to journalArticle

Rady, PL, Surendran, S, Vu, AT, Hawkins, JC, Michals-Matalon, K, Tyring, SK, Merren, J, Kumar, AK & Matalon, R 2002, 'Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands', Genetic Testing, vol. 6, no. 3, pp. 211-215. https://doi.org/10.1089/109065702761403388
Rady PL, Surendran S, Vu AT, Hawkins JC, Michals-Matalon K, Tyring SK et al. Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. Genetic Testing. 2002 Sep;6(3):211-215. https://doi.org/10.1089/109065702761403388
Rady, Peter L. ; Surendran, Sankar ; Vu, Ahn T. ; Hawkins, Judy C. ; Michals-Matalon, Kimberlee ; Tyring, Stephan K. ; Merren, Joy ; Kumar, Alla K. ; Matalon, Reuben. / Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. In: Genetic Testing. 2002 ; Vol. 6, No. 3. pp. 211-215.
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