title: Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia.
abstract: Esophageal atresia (EA) is a congenital developmental defect of the alimentary tract concerning the interruption of the esophagus with or without connection to the trachea. The incidence of EA is 1 in 3000-3500 of live-born infants, and occurs in both isolated and syndromic (in combination with abnormalities in other organ systems) forms. The molecular mechanisms underlying the development of EA are poorly understood. Knockout studies in mice indicate that genes like Sonic hedgehog, Gli2, and Gli3 play a role in the etiology of EA. These facts led us to hypothesize that Sonic hedgehog-GLI gene rearrangements are associated with EA in humans. To test this hypothesis, we screened patients with isolated and syndromic EA for GLI2 and/or GLI3 microrearrangements using methods to estimate the copy number (Multiplex Ligation-dependent Probe Amplification, real-time polymerase chain reaction). To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA.
authors: Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
authors: D
authors: D
authors: Bednarczyk
authors: R
authors: R
authors: Smigiel
authors: D
authors: D
authors: Patkowski
authors: I
authors: I
authors: Laczmanska
authors: A
authors: A
authors: Lebioda
authors: L
authors: L
authors: Laczmanski
authors: M M
authors: MM
authors: Sasiadek
mesh_terms: D001006:Anus, Imperforate / Q000150:complications; D002887:Chromosomes, Human, Pair 18; D056915:DNA Copy Number Variations; D004314:Down Syndrome / Q000150:complications; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities; D005091:Exons; D005199:Fanconi Anemia / Q000150:complications; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011884:Radius / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities; D014314:Trisomy; D000073842:Trisomy 18 Syndrome; D000075746:Zinc Finger Protein Gli2; D000074290:Zinc Finger Protein Gli3
chemical_list: C082593:GLI2 protein, human; C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D000075746:Zinc Finger Protein Gli2; D000074290:Zinc Finger Protein Gli3
keywords: MLPA; RT-PCR; SHH signaling pathway; esophageal atresia