Table 2.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Genes and Distinguishing Clinical Features

Gene 1% of all MMIHSMOIDistinguishing Clinical FeaturesOtherReferences
ACTG2 44.1%ADClassic features of MMIHS (e.g., megacystis, microcolon, intestinal dysmotility) Wangler et al [2014], Tuzovic et al [2015], Halim et al [2016], Milunsky et al [2017a]
LMOD1 1 personARClassic features of MMIHSLarge del/dups not reported to date. Halim et al [2017b]
MYH11 2 personsAR
  • Overlapping features of MMIHS & prune belly sequence (1 person)
  • Overlapping features of MMIHS & MSMDS (1 person)
Large del/dups not assoc w/MMIHS to dateGauthier et al [2015], Yetman & Starr [2018]
MYL9 1 personAR
  • Mydriasis
  • No vascular smooth muscle dysfunction 2
Homozygous partial-gene deletion reported 3 Moreno et al [2018]
MYLK 2 familiesARNo vascular smooth muscle dysfunction 2Large del/dups not assoc w/MMIHS to date Halim et al [2017a]
Unknown~55%

AD = autosomal dominant; AR = autosomal recessive; del/dups = deletions/duplications; MMIHS = megacystis-microcolon-intestinal hypoperistalsis syndrome; MOI = mode of inheritance; MSMDS = multisystemic smooth muscle dysfunction syndrome

1.

Genes are listed alphabetically.

2.

Vascular smooth muscle dysfunction including aortic aneurysms or dissection has not been reported.

3.

Moreno et al [2018] identified a homozygous intragenic 6,964-bp deletion of intron 3, exon 4, and 3' UTR in MYL9 in one of two affected sibs.

From: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview

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