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Review
. 2022 Aug;11(3):113-119.
doi: 10.5582/irdr.2022.01060.

Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1)

Ninon Fournier  1 , Alexandre Fabre  1   2
Affiliations
Review

Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1)

Ninon Fournier et al. Intractable Rare Dis Res. 2022 Aug.

Abstract

Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a systematic review of all published cases involving seven genes with pathogenic variants, ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1, and included 28 articles describing 112 patients and 5 pregnancies terminated before birth. The most commonly described mutations involved ACTG2 (75/112, 67% of patients), MYH11 (14%) and FLNA (13%). Twenty-seven patients (28%) died at a median age of 14.5 months. Among the 76 patients for whom this information was available, 10 (13%) had isolated chronic intestinal pseudo-obstruction (CIPO), 17 (22%) had isolated megacystis, and 48 (63%) had combined CIPO and megacystis. The respective proportions of these phenotypes were 9%, 20% and 71% among the 56 patients with ACTG2 mutations, 20%, 20% and 60% among the 10 patients with MYH11 mutations and 50%, 50% and 0% among the 7 patients with FLNA mutations.

Keywords: ACTG2; FLNA; LMOD1; MYH11; MYL9; MYLK; RAD21; chronic intestinal pseudo-obstruction; megacystis; mutations; smooth muscle motility disorders.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
Venn diagrams of the most common clinical phenotypes among 112 patients with a pathogenic variant of ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 or LMOD1, and separate diagrams for the three most commonly associated genes.
See this image and copyright information in PMC

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