Which is false about Hurler syndrome:
X linked
Mental retardation
Joint stiffness
Coarse facial features
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.
Mendelian Disorders: Single-Gene Defects