The condition is an autosomal recessive disorder, and it is therefore usually necessary for an affected individual to receive the mutant allele from both parents. A number of children diagnosed with the disorder have been born to parents who were first cousins. It can also be associated with uniparental isodisomy.
Theodore Tarby, a pediatric neurologist who has treated some of the community's fumarase deficient residents, has been quoted as estimating the IQ of his patients as around 25.. While treating a child with a developmental disability Tarby sent off a urine sample for testing and learned the child had a disorder so rare that only 13 other current cases were known worldwide. Tarby later learned the child he treated had a sibling who had been diagnosed with cerebral palsy, a disease commonly associated with developmental difficulties. This sibling also turned out to have fumarase deficiency.
According to the Phoenix New Times, the rare disease appeared when Martha Jessop, the daughter of Joseph Smith Jessop, one of the founders of the community, married her second cousin, John Yeates Barlow, in 1923. Tarby and fellow researchers at Barrow Neurological Institute at St. Joseph's Hospital in Phoenix have found that the highest incidence of the disease recorded anywhere appears in the population of polygamists living in these two towns.
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.(Database)(Fumarate hydratase)
Mar 25, 2008; Authors: Jean-Pierre Bayley (corresponding author) ; Virpi Launonen ; Ian PM Tomlinson BackgroundRecently two proteins...
PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 1q (1Q42.3[arrow Right]qter) ASSOCIATED WITH HYDROCEPHALUS AND CORPUS CALLOSUM AGENESIS
Oct 01, 2010; A 27-year-old primigravid woman underwent amniocentesis because of abnormal sonographic findings of severe hydrocephalus at 2 1...