Literature DB >> 27617110

Genetics of Cleft Palate and Velopharyngeal Insufficiency.

Walter M Sweeney1, Steve T Lanier1, Chad A Purnell1, Arun K Gosain1.   

Abstract

Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

Entities:  

Keywords:  cleft palate; genetics; palate anatomy; palate physiology; velopharyngeal insufficiency; velopharynx

Year:  2015        PMID: 27617110      PMCID: PMC4906421          DOI: 10.1055/s-0035-1554978

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  48 in total

Review 1.  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

2.  Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).

Authors:  P P Wang; C Solot; E M Moss; M Gerdes; D M McDonald-McGinn; D A Driscoll; B S Emanuel; E H Zackai
Journal:  J Dev Behav Pediatr       Date:  1998-10       Impact factor: 2.225

3.  TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

Authors:  S Merscher; B Funke; J A Epstein; J Heyer; A Puech; M M Lu; R J Xavier; M B Demay; R G Russell; S Factor; K Tokooya; B S Jore; M Lopez; R K Pandita; M Lia; D Carrion; H Xu; H Schorle; J B Kobler; P Scambler; A Wynshaw-Boris; A I Skoultchi; B E Morrow; R Kucherlapati
Journal:  Cell       Date:  2001-02-23       Impact factor: 41.582

4.  Velopharyngeal anatomy.

Authors:  D R Dickson; W M Dickson
Journal:  J Speech Hear Res       Date:  1972-06

5.  Coordination of velopharyngeal muscle activity during positioning of the soft palate.

Authors:  J B Moon; A E Smith; J W Folkins; J H Lemke; M Gartlan
Journal:  Cleft Palate Craniofac J       Date:  1994-01

6.  Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development.

Authors:  Zhen Zhang; Fabiana Cerrato; Huansheng Xu; Francesca Vitelli; Masae Morishima; Joshua Vincentz; Yasuhide Furuta; Lijiang Ma; James F Martin; Antonio Baldini; Elizabeth Lindsay
Journal:  Development       Date:  2005-12       Impact factor: 6.868

7.  Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development.

Authors:  I Satokata; R Maas
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

8.  Management of the hypodynamic velopharynx.

Authors:  P D Witt; J L Marsh; L Marty-Grames; H R Muntz; W D Gay
Journal:  Cleft Palate Craniofac J       Date:  1995-05

9.  Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Authors:  Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan C Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Journal:  Nat Genet       Date:  2002-09-03       Impact factor: 38.330

10.  A fate map of Tbx1 expressing cells reveals heterogeneity in the second cardiac field.

Authors:  Tuong Huynh; Li Chen; Phillip Terrell; Antonio Baldini
Journal:  Genesis       Date:  2007-07       Impact factor: 2.487

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  2 in total

1.  GWAS reveals loci associated with velopharyngeal dysfunction.

Authors:  Jonathan Chernus; Jasmien Roosenboom; Matthew Ford; Myoung Keun Lee; Beth Emanuele; Joel Anderton; Jacqueline T Hecht; Carmencita Padilla; Frederic W B Deleyiannis; Carmen J Buxo; Eleanor Feingold; Elizabeth J Leslie; John R Shaffer; Seth M Weinberg; Mary L Marazita
Journal:  Sci Rep       Date:  2018-05-31       Impact factor: 4.379

2.  Velopharyngeal Inadequacy-Related Quality of Life Assessment: The Instrument Development and Application Review.

Authors:  Nan Chen; Bing Shi; Hanyao Huang
Journal:  Front Surg       Date:  2022-03-08
  2 in total

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