Article: Mutational analysis of SHH and GLI3 in anorectal malformations

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TitleMutational analysis of SHH and GLI3 in anorectal malformations
AuthorsGarciaBarceló, MM4
Lui, VCH4
Miao, X4
So, MT4
Leon, TYY4
Yuan, ZW3
Li, L7
Liu, L2
Wang, B2
Sun, XB8
Huang, LM6
Tou, JF5
Ngan, ESW4
Cherny, SS1 4
Chan, KW9
Lee, KH9
Wang, W3
Wong, KKY4
Tam, PKH4
KeywordsAnorectal malformations
GLI3
SHH
Issue Date2008
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
CitationBirth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.20482
AbstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.
ISSN1542-0752
2011 SCImago Journal Rankings: 0.199
DOIhttp://dx.doi.org/10.1002/bdra.20482
ISI Accession Number IDWOS:000259713600006
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorGarciaBarceló, MM
dc.contributor.authorLui, VCH
dc.contributor.authorMiao, X
dc.contributor.authorSo, MT
dc.contributor.authorLeon, TYY
dc.contributor.authorYuan, ZW
dc.contributor.authorLi, L
dc.contributor.authorLiu, L
dc.contributor.authorWang, B
dc.contributor.authorSun, XB
dc.contributor.authorHuang, LM
dc.contributor.authorTou, JF
dc.contributor.authorNgan, ESW
dc.contributor.authorCherny, SS
dc.contributor.authorChan, KW
dc.contributor.authorLee, KH
dc.contributor.authorWang, W
dc.contributor.authorWong, KKY
dc.contributor.authorTam, PKH
dc.date.accessioned2010-05-31T03:55:28Z
dc.date.available2010-05-31T03:55:28Z
dc.date.issued2008
dc.description.abstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.
dc.description.naturelink_to_subscribed_fulltext
dc.identifier.citationBirth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648 [How to Cite?]
DOI: http://dx.doi.org/10.1002/bdra.20482
dc.identifier.doihttp://dx.doi.org/10.1002/bdra.20482
dc.identifier.eissn1542-0760
dc.identifier.epage648
dc.identifier.hkuros152819
dc.identifier.isiWOS:000259713600006
dc.identifier.issn1542-0752
2011 SCImago Journal Rankings: 0.199
dc.identifier.issue9
dc.identifier.pmid18655123
dc.identifier.scopuseid_2-s2.0-52249090865
dc.identifier.spage644
dc.identifier.urihttp://hdl.handle.net/10722/59691
dc.identifier.volume82
dc.languageeng
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
dc.publisher.placeUnited States
dc.relation.ispartofBirth Defects Research Part A - Clinical and Molecular Teratology
dc.relation.referencesReferences in Scopus
dc.subjectAnorectal malformations
dc.subjectGLI3
dc.subjectSHH
dc.titleMutational analysis of SHH and GLI3 in anorectal malformations
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Shenzhen Children's Hospital
  3. China Medical University Shenyang
  4. The University of Hong Kong
  5. Zhejiang Children's Hospital
  6. Peking University
  7. Capital Institute of Pediatrics
  8. Shandong University School of Medicine
  9. Chinese University of Hong Kong