Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes

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5 Citations (Scopus)

Abstract

We describe a neonatal patient with fixed dilated pupils and pulmonary, bladder, and bowel dysfunction suspicious for the presence of ACTA2 R179 mediated multisystemic smooth muscle dysfunction syndrome. Whole exome sequencing revealed compound heterozygous mutations in MYH11 after ACTA2 specific testing revealed no abnormalities. The child lived until 18 months of age and represents the only reported case of an MYH11 compound heterozygote with widespread smooth muscle dysfunction.

Original languageEnglish (US)
Pages (from-to)1011-1014
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number4
DOIs
StatePublished - Apr 2018

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Smooth Muscle
Pupil Disorders
Exome
Heterozygote
Urinary Bladder
Lung
Mutation
Microcolon
Megaduodenum

Keywords

  • ACTA2
  • ACTG2, MYH11
  • microcolon
  • smooth muscle dysfunction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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AB - We describe a neonatal patient with fixed dilated pupils and pulmonary, bladder, and bowel dysfunction suspicious for the presence of ACTA2 R179 mediated multisystemic smooth muscle dysfunction syndrome. Whole exome sequencing revealed compound heterozygous mutations in MYH11 after ACTA2 specific testing revealed no abnormalities. The child lived until 18 months of age and represents the only reported case of an MYH11 compound heterozygote with widespread smooth muscle dysfunction.

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