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dc.creatorPoulter, James A.
dc.creatorSmith, Claire E. L.
dc.creatorMurillo Knudsen, Gina
dc.creatorSilva de la Fuente, Sandra Maria
dc.creatorFeather, Sally
dc.creatorHowell Ramírez, Marianella
dc.creatorCrinnion, Laura
dc.creatorBonthron, David
dc.creatorCarr, Ian M.
dc.creatorWatson, Christopher M.
dc.creatorInglehearn, Chris F.
dc.creatorMighell, Alan J.
dc.date.accessioned2018-07-24T14:49:39Z
dc.date.available2018-07-24T14:49:39Z
dc.date.issued2015-10-04
dc.identifier.citationhttps://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.164
dc.identifier.issn2324-9269
dc.identifier.urihttps://hdl.handle.net/10669/75266
dc.description.abstractBiallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype is shared in both conditions. On Sanger sequencing of FAM20A in cases with that phenotype, we identified two probands with single, likely pathogenic heterozygous mutations. Given the recessive inheritance pattern seen inall previous FAM20A mutation-positive families and the potential for renal disease, further screening was carried out to look for a second pathogenic allele. Reverse transcriptase-PCR on cDNA was used to determine transcript levels. CNVseq was used to screen for genomic insertions and deletions. In one family, FAM20AcDNA screening revealed only a single mutated FAM20A allele with the wild-type allele not transcribed. In the second family, CNV detection by whole genome sequencing (CNVseq) revealed a heterozygous 54.7 kb duplication encompassing exons 1 to 4 of FAM20A. This study confirms the link between biallelic FAM20A mutations and the characteristic oral phenotype. It highlights for the first time examples of FAM20A mutations missed by the most commonly used mutation screening techniques. This information informed renal assessment and ongoing clinical care.es_ES
dc.description.sponsorshipMedical Research Council/[MR/LO1629X/1]/MRC/Inglaterraes_ES
dc.description.sponsorshipThe Sir Jules Thorn Award for Biomedical Research/[JTA/09]//Inglaterraes_ES
dc.description.sponsorshipWellcome Trust/[093113]//Inglaterraes_ES
dc.language.isoen_USes_ES
dc.sourceMolecular Genetics & Genomic Medicine,vol.3(6),pp.543-549es_ES
dc.subjectAmelogenesis imperfectaes_ES
dc.subjectCNVseqes_ES
dc.subjectFAM20Aes_ES
dc.subjectEnamel renal syndromees_ES
dc.titleA distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencinges_ES
dc.typeartículo científico
dc.identifier.doi10.1002/mgg3.164
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biología Celular y Molecular (CIBCM)es_ES
dc.description.procedenceUCR::Vicerrectoría de Docencia::Salud::Facultad de Odontologíaes_ES


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