Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Lord Jephthah Joojo GowansAzeez Butali

Abstract

Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband w...Continue Reading

References

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Jul 12, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·A ButaliUNKNOWN NigeriaCRAN Collaboration
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Mar 29, 2016·American Journal of Human Genetics·Elizabeth J LeslieMary L Marazita

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Citations

Jun 6, 2018·Molecular Genetics & Genomic Medicine·Adebowale A AdeyemoOlayemi O Omotade

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Methods Mentioned

BETA
DNA collection
electrophoresis
Assay
PCR

Software Mentioned

ENSEMBL
PHRED
PHRAP
Primer3
PolyPhen
SIFT
HOPE
PROVEAN

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