Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients

Journal of Neurogastroenterology and Motility

Volumn 17, Issue 2, 2011, Pages 169-173

  Jung, Kee Wook ^a   Yoon, In Ja ^a   Kim, Do Hoon ^a   Chung, Jun Won ^a   Choi, Kwi Sook ^a   Choi, Kee Don ^a   Song, Ho June ^a   Lee, Gin Hyug ^a   Myung, Seung Jae ^a   Kim, Jin Ho ^a   Maskey, Dhiraj ^b   Kim, Myeung Ju ^b   Jung, Hwoon Yong ^a  

^a University of Ulsan College of Medicine   (South Korea)

^b Dankook University   (South Korea)

Author keywords

AAAS protein; Esophageal achalasia; Human; Shirmer test

Indexed keywords

EID: 80054935746     PISSN: 20930879     EISSN: 20930887     Source Type: Journal    
DOI: 10.5056/jnm.2011.17.2.169     Document Type: Article

References (15)

1. Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current understanding. Am J Gastroenterol 2005;100:1404-1414.
2. Scherb J, Arias IM. Achalasia of the esophagus and Chagas' disease. Gastroenterology 1962;43:212-215.
3. Storch WB, Eckardt VF, Wienbeck M, et al. Autoantibodies to Auerbach's plexus in achalasia. Cell Mol Biol (Noisy-le-grand) 1995;41:1033-1038.
4. Ruiz-de-León A, Mendoza J, Sevilla-Mantilla C, et al. Myenteric antiplexus antibodies and class II HLA in achalasia. Dig Dis Sci 2002;47:15-19.
5. Houlden H, Smith S, De Carvalho M, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002;125:2681-2690.
6. Chávez M, Moreno C, Pérez A, et al. [Allgrove syndrome (achalasia-alacrima-adrenal gland insufficiency): report of a case.] Rev Gastroenterol Peru 1996;16:153-157. [Spanish]
7. Verma S, Brown S, Dakkak M, Bennett JR. Association of adult achalasia and alacrima. Dig Dis Sci 1999;44:876-878.
8. Brooks BP, Kleta R, Stuart C, et al. Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. Clin Genet 2005;68:215-221.
9. Vitali C, Bombardieri S, Jonsson R, et al. Classification criteria for Sjogren's syndrome: a revised version of the European criteria proposed by the American-European Consensus Group. Ann Rheum Dis 2002;61:554-558.
10. Methodologies to diagnose and monitor dry eye disease: report of the Diagnostic Methodology Subcommittee of the International Dry Eye WorkShop (2007). Ocul Surf 2007;5:108-152.
11. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001;10:283-290.
12. Tullio-Pelet A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000;26:332-335.
13. Weber A, Wienker TF, Jung M, et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 1996;5:2061-2066.
14. Stratakis CA, Lin JP, Pras E, Rennert OM, Bourdony CJ, Chan WY. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. Proc Assoc Am Physicians 1997;109:478-482.
15. Nakamura K, Yoshida K, Yoshinaga T, et al. Adult or late-onset triple A syndrome: case report and literature review. J Neurol Sci 2010;297:85-88.