Mutational analysis of SHH and GLI3 in anorectal malformations

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 G...

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Published in:Birth defects research. A Clinical and molecular teratology 2008-09, Vol.82 (9), p.644-648
Main Authors: Garcia-Barceló, Maria-Mercè, Chi-Hang Lui, Vincent, Miao, Xiaoping, So, Man-ting, Yuk-yu Leon, Thomas, Yuan, Zhen-wei, Li, Long, Liu, Lei, Wang, Bin, Sun, Xiao-bing, Huang, Liu-ming, Tou, Jin-fa, Sau-wai Ngan, Elly, Cherny, Stacey S., Chan, Kin-wai, Lee, Kim-hung, Wang, Weiling, Kak-yuen Wong, Kenneth, Kwong-hang Tam, Paul
Format: Article
Language:English
Subjects:
Adult
Aged
Amino Acid Substitution - genetics
Anal Canal - abnormalities
anorectal malformations
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Variation
GLI3
Hedgehog Proteins - genetics
Humans
Kruppel-Like Transcription Factors - genetics
Male
Middle Aged
Nerve Tissue Proteins - genetics
Point Mutation
Polymorphism, Single Nucleotide - genetics
Predictive Value of Tests
Rectum - abnormalities
SHH
Syndrome
Zinc Finger Protein Gli3
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Summary: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. Birth Defects Research (Part A) 82:644–648, 2008. © 2008 Wiley‐Liss, Inc.
ISSN:1542-0752
1542-0760
DOI:10.1002/bdra.20482