The location of genes on chromosome 12<unk>  is caused by a missense mutation (where one amino acid is replaced by another in a gene sequence) in the TRPV4 gene, located on the long arm of human chromosome 12, at 12q24.11. The mutation is in exon 11 of the gene, and is labelled R594H; this means that the codon (the code for an amino acid molecule) for arginine was erroneously substituted by a codon for histidine at position 594 in that exon. This same mutation in the TRVP4 gene is known to cause the Kozlowski type of spondylometaphyseal dysplasia.<unk>  is inherited in an autosomal dominant manner, which means that the defective gene responsible for the disease is located on an autosome (chromosome 12 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.<unk>  results from mutations within the N-ankyrin domain of TRPV4, which has been identified to be involved in regulation of the TRPV4 calcium ion channel. This influx of calicum may be responsible for neuronal cell death, as well as affecting levels of circulating growth hormones.<unk>  is a very rare disorder, and as of 2011, only 5 people were diagnosed worldwide. As such, functional analysis has proved elusive at this time.
Parastremmatic dwarfism
Primordial dwarfism
Brachyphalangy
Iniencephaly
Dwarfism
Hemifacial microsomia
Pseudo-Hurler polydystrophy
Retrognathism