Genomic coordinate (human 10:43,077,069 RET) & (mouse 6:118,128,706 Ret).
Cytoband (human 10q11.21 RET) & (mouse 6qF1 Ret).
Here I present: “Hirschsprung Disease“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (RET) icd10=Q43.1
The disorder described in 1888 by Harald Hirschsprung and known as Hirschsprung disease (HSCR), or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid.
The RET protooncogene is one of the receptor tyrosine kinases, cell-surface molecules that transduce signals for cell growth and differentiation. Mutations in the RET gene are associated Hirschsprung disease (HSCR; aganglionic megacolon).
Hirschsprung disease (HSCR) is caused by failure of neural crest cell migration into the distal bowel during embryogenesis, leading to: Absence of ganglion cells in: Auerbach (myenteric) plexus & Meissner (submucosal) plexus. Result → tonic contraction of the aganglionic segment → functional obstruction → proximal megacolon.
There is evidence that Hirschsprung disease (HSCR) is caused by mutation in the receptor-tyrosine-kinase RET protooncogene (RET) gene encoded on genomic coordinate 10:43,077,069 and cytoband 10q11.21 in humans.
