Talk:Haploinsufficiency

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==The homozygous form==

For each of the diseases listed, what is the effect if the defective gene is present twice (= homozygous)?

The page Achondroplastic dwarfism says that a baby with the achondroplastic dwarfism gene homozygous dies before or soon after birth. Anthony Appleyard 14:42, 25 July 2006 (UTC)

By this definition of haploinsuffiiciency, achondroplasia is not a good example. this disease occurs because the mutated gene encodes a receptor which is constitutively active(always switched on) which leads to dwarfism, NOT because the normal copy is insufficient for normal function but because the mutant is MORE active.

I removed achondroplasia, sounds more like a hypermorph - dominant gain-of-function - than haploinsufficiency. Dr d12 18:15, 4 December 2006 (UTC)

Huntington Disease is not caused by haploinsufficiency. One copy of the mutant allele is enough to cause the disease because the misfolded protein from the mutant allele also affects the wildtype protein from the normal allele. —Preceding unsigned comment added by 71.194.163.144 (talk) 06:34, 12 November 2007 (UTC)