%0 Journal Article
%T Five New Cases of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS), with One Case Showing a Novel Mutation.
%A Kalsbeek A
%A Dhar-Dass R
%A Hanan A
%A Al-Haddad E
%A William I
%A Alazraki A
%A Poulik J
%A McCollum K
%A Almashad A
%A Shehata BM
%J Fetal Pediatr Pathol
%V 0
%N 0
%D Aug 2021 12
%M 34383618
%F 1.412
%R 10.1080/15513815.2021.1964656
%X <B>UNASSIGNED: </B>Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis.<BR><B>UNASSIGNED: </B>Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed.<BR><B>UNASSIGNED: </B>Four cases showed mutations in the α3 and β4 nicotinic acetylcholine receptor (ηAChR) subunits (CHRNA3 and CHRNB4, respectively) on chromosome 15q24. The 5th case had a delayed clinical presentation of intussusception at 11 months and showed a novel missense mutation in ATP2B4 on Chromosome 1q32.<BR><B>UNASSIGNED: </B>The first four patients showed a previously identified mutation. The 5th patient shows a novel mutation in ATP2B4. This novel gene was associated with a less severe presentation and increases success of multiorgan transplant than the other four patients. This highlights how identifying various mutations may impact prognosis and clinical treatment plans for MMIHS patients.