Literature DB >> 25944382

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

Jeroen Breckpot1, Britt-Marie Anderlid2, Yasemin Alanay3, Moira Blyth4, Afane Brahimi5, Bénédicte Duban-Bedu5, Odile Gozé6, Helen Firth7, Mustafa Cengiz Yakicier8, Greet Hens9, Maissa Rayyan10, Eric Legius1, Joris Robert Vermeesch1, Koen Devriendt1.   

Abstract

We report on seven novel patients with a submicroscopic 22q12 deletion. The common phenotype constitutes a contiguous gene deletion syndrome on chromosome 22q12.1q12.2, featuring NF2-related schwannoma of the vestibular nerve, corpus callosum agenesis and palatal defects. Combining our results with the literature, eight patients are recorded with palatal defects in association with haploinsufficiency of 22q12.1, including the MN1 gene. These observations, together with the mouse expression data and the finding of craniofacial malformations including cleft palate in a Mn1-knockout mouse model, suggest that this gene is a candidate gene for cleft palate in humans.

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Year:  2015        PMID： 25944382      PMCID： PMC4795238          DOI： 10.1038/ejhg.2015.65

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  32 in total

1.  The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

Authors:  A Buijs; L van Rompaey; A C Molijn; J N Davis; A C Vertegaal; M D Potter; C Adams; S van Baal; E C Zwarthoff; M F Roussel; G C Grosveld
Journal:  Mol Cell Biol       Date:  2000-12       Impact factor: 4.272

Review 2.  Developmental and genetic perspectives on Pierre Robin sequence.

Authors:  Tiong Yang Tan; Nicky Kilpatrick; Peter G Farlie
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-11       Impact factor: 3.908

Review 3.  Genetics of cleft lip and cleft palate.

Authors:  Elizabeth J Leslie; Mary L Marazita
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 4.  Genetics of cleft lip and/or cleft palate: association with other common anomalies.

Authors:  Núria Setó-Salvia; Philip Stanier
Journal:  Eur J Med Genet       Date:  2014-04-21       Impact factor: 2.708

5.  High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Authors:  C E Bruder; C Hirvelä; I Tapia-Paez; I Fransson; R Segraves; G Hamilton; X X Zhang; D G Evans; A J Wallace; M E Baser; J Zucman-Rossi; M Hergersberg; E Boltshauser; L Papi; G A Rouleau; G Poptodorov; A Jordanova; H Rask-Andersen; L Kluwe; V Mautner; M Sainio; G Hung; T Mathiesen; C Möller; S M Pulst; H Harder; A Heiberg; M Honda; M Niimura; S Sahlén; E Blennow; D G Albertson; D Pinkel; J P Dumanski
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

6.  The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

Authors:  C Braybrook; K Doudney; A C Marçano; A Arnason; A Bjornsson; M A Patton; P J Goodfellow; G E Moore; P Stanier
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

7.  Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.

Authors:  G Barbi; E Rossier; S Vossbeck; H Hummler; D Lang; F Flock; R Terinde; J Wirth; W Vogel; H Kehrer-Sawatzki
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

8.  Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Authors:  Roberta Sestini; Costanza Bacci; Aldesia Provenzano; Maurizio Genuardi; Laura Papi
Journal:  Hum Mutat       Date:  2008-02       Impact factor: 4.878

9.  Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Authors:  Claire Braybrook; Steven Lisgo; Kit Doudney; Deborah Henderson; Ana Carolina B Marçano; Tom Strachan; Michael A Patton; Laurent Villard; Gudrun E Moore; Philip Stanier; Susan Lindsay
Journal:  Hum Mol Genet       Date:  2002-10-15       Impact factor: 6.150

10.  Cell fate decisions in malignant hematopoiesis: leukemia phenotype is determined by distinct functional domains of the MN1 oncogene.

Authors:  Courteney K Lai; Yeonsook Moon; Florian Kuchenbauer; Daniel T Starzcynowski; Bob Argiropoulos; Eric Yung; Philip Beer; Adrian Schwarzer; Amit Sharma; Gyeongsin Park; Malina Leung; Grace Lin; Sarah Vollett; Stephen Fung; Connie J Eaves; Aly Karsan; Andrew P Weng; R Keith Humphries; Michael Heuser
Journal:  PLoS One       Date:  2014-11-17       Impact factor: 3.240
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  5 in total

1.  Analysis of human soft palate morphogenesis supports regional regulation of palatal fusion.

Authors:  Adrian Danescu; Melanie Mattson; Carly Dool; Virginia M Diewert; Joy M Richman
Journal:  J Anat       Date:  2015-08-24       Impact factor: 2.610

2.  MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Authors:  Christopher C Y Mak; Dan Doherty; Angela E Lin; Nancy Vegas; Megan T Cho; Géraldine Viot; Clémantine Dimartino; James D Weisfeld-Adams; Davor Lessel; Shelagh Joss; Chumei Li; Claudia Gonzaga-Jauregui; Yuri A Zarate; Nadja Ehmke; Denise Horn; Caitlin Troyer; Sarina G Kant; Youngha Lee; Gisele E Ishak; Gordon Leung; Amanda Barone Pritchard; Sandra Yang; Eric G Bend; Francesca Filippini; Chelsea Roadhouse; Nicolas Lebrun; Michele G Mehaffey; Pierre-Marie Martin; Benjamin Apple; Francisca Millan; Oliver Puk; Mariette J V Hoffer; Lindsay B Henderson; Ruth McGowan; Ingrid M Wentzensen; Steven Pei; Farah R Zahir; Mullin Yu; William T Gibson; Ann Seman; Marcie Steeves; Jill R Murrell; Sabine Luettgen; Elizabeth Francisco; Tim M Strom; Louise Amlie-Wolf; Angela M Kaindl; William G Wilson; Sara Halbach; Lina Basel-Salmon; Noa Lev-El; Jonas Denecke; Lisenka E L M Vissers; Kelly Radtke; Jamel Chelly; Elaine Zackai; Jan M Friedman; Michael J Bamshad; Deborah A Nickerson; Russell R Reid; Koenraad Devriendt; Jong-Hee Chae; Elliot Stolerman; Carey McDougall; Zöe Powis; Thierry Bienvenu; Tiong Y Tan; Naama Orenstein; William B Dobyns; Joseph T Shieh; Murim Choi; Darrel Waggoner; Karen W Gripp; Michael J Parker; Joan Stoler; Stanislas Lyonnet; Valérie Cormier-Daire; David Viskochil; Trevor L Hoffman; Jeanne Amiel; Brian H Y Chung; Christopher T Gordon
Journal:  Brain       Date:  2020-01-01       Impact factor: 13.501

3.  Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

Authors:  Noriko Miyake; Hidehisa Takahashi; Kazuyuki Nakamura; Bertrand Isidor; Yoko Hiraki; Eriko Koshimizu; Masaaki Shiina; Kazunori Sasaki; Hidefumi Suzuki; Ryota Abe; Yayoi Kimura; Tomoko Akiyama; Shin-Ichi Tomizawa; Tomonori Hirose; Kohei Hamanaka; Satoko Miyatake; Satomi Mitsuhashi; Takeshi Mizuguchi; Atsushi Takata; Kazuyuki Obo; Mitsuhiro Kato; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2019-12-12       Impact factor: 11.025

4.  MN1 gene loss-of-function mutation causes cleft palate in a pedigree.

Authors:  Li Shu; Dinghua He; Dan Wu; Ying Peng; Hui Xi; Xiao Mao; Hua Wang
Journal:  Brain       Date:  2021-03-03       Impact factor: 13.501

5.  Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination.

Authors:  Luisa F Pallares; Peter Carbonetto; Shyam Gopalakrishnan; Clarissa C Parker; Cheryl L Ackert-Bicknell; Abraham A Palmer; Diethard Tautz
Journal:  PLoS Genet       Date:  2015-11-02       Impact factor: 5.917
  5 in total

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