Literature DB >> 17618899

Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor.

M Narayanan1, M S Murphy, J R Ainsworth, G S Arul.   

Abstract

We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha3 subunit or the beta2 and beta4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans.

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Year:  2007        PMID： 17618899     DOI： 10.1016/j.jpedsurg.2007.02.023

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN： 0022-3468            Impact factor:   2.545


  6 in total

1.  De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

Authors:  Dianna M Milewicz; John R Østergaard; Leena M Ala-Kokko; Nadia Khan; Dorothy K Grange; Roberto Mendoza-Londono; Timothy J Bradley; Ann Haskins Olney; Lesley Adès; Joseph F Maher; Dongchuan Guo; L Maximilian Buja; Dong Kim; James C Hyland; Ellen S Regalado
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

Review 2.  Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Authors:  Danielle Mc Laughlin; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

Review 3.  Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Authors:  Jan-Hendrik Gosemann; Prem Puri
Journal:  Pediatr Surg Int       Date:  2011-10       Impact factor: 1.827

4.  Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Carolina Araujo Moreno; Nara Sobreira; Elizabeth Pugh; Peng Zhang; Gary Steel; Fábio Rossi Torres; Denise Pontes Cavalcanti
Journal:  Eur J Hum Genet       Date:  2018-02-16       Impact factor: 4.246

5.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917

6.  High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:  Aisling B Mc Glacken-Byrne; David Prentice; Danial Roshandel; Michael R Brown; Philip Tuch; Kyle S-Y Yau; Padma Sivadorai; Mark R Davis; Nigel G Laing; Fred K Chen
Journal:  BMC Ophthalmol       Date:  2020-02-24       Impact factor: 2.209
  6 in total

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