Sequence Evaluation of FGF and FGFR Gene Conserved Non-Coding Elements in Non-Syndromic Cleft Lip and Palate Cases

Bridget M RILEY; Jeffrey C MURRAY

doi:10.1002/ajmg.a.31965

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Sequence Evaluation of FGF and FGFR Gene Conserved Non-Coding Elements in Non-Syndromic Cleft Lip and Palate Cases

Journal article

Peer reviewed

Sequence Evaluation of FGF and FGFR Gene Conserved Non-Coding Elements in Non-Syndromic Cleft Lip and Palate Cases

Bridget M RILEY and Jeffrey C MURRAY

American journal of medical genetics. Part A, Vol.143(24), pp.3228-3234

2007

DOI: 10.1002/ajmg.a.31965

PMCID: PMC2680818

PMID: 17963255

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Abstract

Non-syndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from multiple genetic and environmental factors. We have previously reported the sequencing of the coding region of genes in the fibroblast growth factor (FGF) signaling pathway, in which missense and non-sense mutations contribute to approximately 5%-6% NS CLP cases. In this article we report the sequencing of conserved non-coding elements (CNEs) in and around 11 of the FGF and FGFR genes, which identified 55 novel variants. Seven of variants are highly conserved among >/=8 species and 31 variants alter transcription factor binding sites, 8 of which are important for craniofacial development. Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting.

Medical Genetics

Biological and medical sciences

Medical sciences

Facial bones, jaws, teeth, parodontium: diseases, semeiology

Otorhinolaryngology. Stomatology

Non tumoral diseases

Details

Title: Subtitle: Sequence Evaluation of FGF and FGFR Gene Conserved Non-Coding Elements in Non-Syndromic Cleft Lip and Palate Cases
Creators: Bridget M RILEY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
Jeffrey C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.143(24), pp.3228-3234
DOI: 10.1002/ajmg.a.31965
PMID: 17963255
PMCID: PMC2680818
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: Wiley-Liss; Hoboken, NJ
Language: English
Date published: 2007
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025376502771

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