Literature DB >> 27352967

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Maria M Alves1, Danny Halim1, Reza Maroofian2, Bianca M de Graaf1, Raoul Rooman3, Christine S van der Werf4, Els Van de Vijver3, Mohammad Yv Mehrjardi5,6, Majid Aflatoonian7, Barry A Chioza2, Emma L Baple2,8, Mohammadreza Dehghani5,9, Andrew H Crosby2, Robert Mw Hofstra1.   

Abstract

Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an autosomal recessive form of the disease. However, due to the rare nature of CSBS, only a small number of patients have been reported to date with variants in this gene. In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS.

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27352967      PMCID： PMC5055811          DOI： 10.1038/ejhg.2016.58

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


  8 in total

Review 1.  Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

Authors:  Christine S van der Werf; Danny Halim; Joke B G M Verheij; Maria M Alves; Robert M W Hofstra
Journal:  Biochim Biophys Acta       Date:  2015-08-15

2.  Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption.

Authors:  J R Hamilton; B J Reilly; R Morecki
Journal:  Gastroenterology       Date:  1969-01       Impact factor: 22.682

3.  Current use and clinical outcome of home parenteral and enteral nutrition therapies in the United States.

Authors:  L Howard; M Ament; C R Fleming; M Shike; E Steiger
Journal:  Gastroenterology       Date:  1995-08       Impact factor: 22.682

4.  A patient with congenital short small bowel associated with malrotation.

Authors:  A I De Backer; P M Parizel; A De Schepper; W Vaneerdeweg
Journal:  J Belge Radiol       Date:  1997-04

5.  CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.

Authors:  Christine S Van Der Werf; Tara D Wabbersen; Nai-Hua Hsiao; Joana Paredes; Heather C Etchevers; Peter M Kroisel; Dick Tibboel; Candice Babarit; Richard A Schreiber; Edward J Hoffenberg; Michel Vekemans; Sirkka L Zeder; Isabella Ceccherini; Stanislas Lyonnet; Ana S Ribeiro; Raquel Seruca; Gerard J Te Meerman; Sven C D van Ijzendoorn; Iain T Shepherd; Joke B G M Verheij; Robert M W Hofstra
Journal:  Gastroenterology       Date:  2011-12-07       Impact factor: 22.682

Review 6.  Filamin A: phenotypic diversity.

Authors:  Stephen P Robertson
Journal:  Curr Opin Genet Dev       Date:  2005-06       Impact factor: 5.578

7.  CLMP, a novel member of the CTX family and a new component of epithelial tight junctions.

Authors:  Elisabeth Raschperger; Ulla Engstrom; Ralf F Pettersson; Jonas Fuxe
Journal:  J Biol Chem       Date:  2003-10-22       Impact factor: 5.157

8.  Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

Authors:  Christine S van der Werf; Yunia Sribudiani; Joke B G M Verheij; Matthew Carroll; Edward O'Loughlin; Chien-Huan Chen; Alice S Brooks; M Kathryn Liszewski; John P Atkinson; Robert M W Hofstra
Journal:  Genet Med       Date:  2012-10-04       Impact factor: 8.822
  8 in total
  7 in total

1.  First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene.

Authors:  Jalal Gharesouran; Behnaz Salek Esfahani; Saeed Farajzadeh Valilou; Mohsen Moradi; Mir Hadi Mousavi; Maryam Rezazadeh
Journal:  J Pediatr Genet       Date:  2018-10-26

Review 2.  Phosphorylation of tight junction transmembrane proteins: Many sites, much to do.

Authors:  Christina M Van Itallie; James M Anderson
Journal:  Tissue Barriers       Date:  2017-10-30

Review 3.  Intestinal organoids for modelling intestinal development and disease.

Authors:  Kathryn L Fair; Jennifer Colquhoun; Nicholas R F Hannan
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2018-07-05       Impact factor: 6.237

4.  The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.

Authors:  Hanna Langhorst; René Jüttner; Dieter Groneberg; Azadeh Mohtashamdolatshahi; Laura Pelz; Bettina Purfürst; Kai M Schmidt-Ott; Andreas Friebe; Fritz G Rathjen
Journal:  Dis Model Mech       Date:  2018-02-22       Impact factor: 5.758

5.  Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands.

Authors:  Yao-Hung Chuang; Wen-Lang Fan; Yu-De Chu; Kung-Hao Liang; Yuan-Ming Yeh; Chien-Chang Chen; Cheng-Hsun Chiu; Ming-Wei Lai
Journal:  Front Genet       Date:  2020-12-15       Impact factor: 4.599

6.  Composite Scaffolds Based on Intestinal Extracellular Matrices and Oxidized Polyvinyl Alcohol: A Preliminary Study for a New Regenerative Approach in Short Bowel Syndrome.

Authors:  Francesca Grandi; Elena Stocco; Silvia Barbon; Anna Rambaldo; Martina Contran; Francesco Fascetti Leon; Piergiorgio Gamba; Pier Paolo Parnigotto; Veronica Macchi; Raffaele De Caro; Andrea Porzionato
Journal:  Biomed Res Int       Date:  2018-05-27       Impact factor: 3.411

7.  Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS.

Authors:  Fen-Fen Ou; Ming-Jie Li; Li-Bin Mei; Xin-Zhu Lin; Yan-An Wu
Journal:  Front Pediatr       Date:  2022-01-17       Impact factor: 3.418
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.