Publications by authors named "Ann-Kathrin Hoebel"
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Birth Defects Res A Clin Mol Teratol
September 2016
Background: Nonsyndromic cleft with or without cleft palate (nsCL/P) is a common birth defect. Although genome-wide association studies (GWAS) have identified numerous risk variants, a considerable fraction of the genetic heritability remains unknown. The aim of the present study was to replicate a previous finding that de novo deletions in a 62 kb region of chromosome 7p14 are a risk factor for nsCL/P, using an independent cohort.
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- Nonsyndromic cleft lip and palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most common types of congenital orofacial clefts, with Van der Woude syndrome being a recognized associated condition, featuring mutations in the GRHL3 gene.
- Recent sequencing studies found that nsCPO patients had a significantly higher frequency of a specific mutation (rs41268753) linked to the GRHL3 gene compared to control groups, suggesting a strong association for nsCPO.
- Additional findings revealed four novel GRHL3 mutations, insinuating that genetic counseling may indicate these mutations are more influential in cases of nonsyndromic cleft palate over the syndromic forms like