title: Mutational analysis of SHH and GLI3 in anorectal malformations.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Surgery, University of Hong Kong, Hong Kong SAR, China.
authors.forename: Maria-Mercè
authors.initials: MM
authors.lastname: Garcia-Barceló
authors.forename: Vincent
authors.initials: V
authors.lastname: Chi-Hang Lui
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Miao
authors.forename: Man-ting
authors.initials: MT
authors.lastname: So
authors.forename: Thomas
authors.initials: T
authors.lastname: Yuk-yu Leon
authors.forename: Zhen-wei
authors.initials: ZW
authors.lastname: Yuan
authors.forename: Long
authors.initials: L
authors.lastname: Li
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.forename: Xiao-bing
authors.initials: XB
authors.lastname: Sun
authors.forename: Liu-Ming
authors.initials: LM
authors.lastname: Huang
authors.forename: Jin-fa
authors.initials: JF
authors.lastname: Tou
authors.forename: Elly
authors.initials: E
authors.lastname: Sau-wai Ngan
authors.forename: Stacey S
authors.initials: SS
authors.lastname: Cherny
authors.forename: Kin-wai
authors.initials: KW
authors.lastname: Chan
authors.forename: Kim-hung
authors.initials: KH
authors.lastname: Lee
authors.forename: Weiling
authors.initials: W
authors.lastname: Wang
authors.forename: Kenneth
authors.initials: K
authors.lastname: Kak-yuen Wong
authors.forename: Paul
authors.initials: P
authors.lastname: Kwong-hang Tam
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D014644:Genetic Variation; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011237:Predictive Value of Tests; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome; D000074290:Zinc Finger Protein Gli3
chemical_list: C065683:GLI3 protein, human; D053823:Hedgehog Proteins; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; C509239:SHH protein, human; D000074290:Zinc Finger Protein Gli3