Which is false about Hurler syndrome:
Ans. (a) X linkedRef: Robbiris pathology 9th ed. /155* HURLER syndrome is autosomal recessive while HUNTER SYNDROME is X linked recessive* HURLER syndrome is marked by progressive deterioration, hepatosplenomegaly, dwarfism and unique facial features. There is a progressive mental retardation, with death frequently occurring by the age of 10 years* Hurler is due to defective IDUA gene, which has been mapped to the 4pl6.3 site on chromosome 4. The gene is named IDUA because of its iduronidase enzyme protein product.
X linked
Mental retardation
Joint stiffness
Coarse facial features
Mendelian Disorders: Single-Gene Defects