A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.
作者： James A. Poulter , Claire E. L. Smith , Gina Murrillo , Sandra Silva , Sally Feather
DOI: 10.1002/MGG3.164
关键词:
摘要: Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: and Gingival Fibromatosis Syndrome; Enamel Renal Syndrome. A distinctive oral phenotype shared in both conditions. On Sanger sequencing of cases with that phenotype, we identified probands single, likely pathogenic heterozygous mutations. Given recessive inheritance pattern seen all previous mutation-positive families potential for renal disease, further screening was carried out to look a second allele. Reverse transcriptase-PCR on cDNA used determine transcript levels. CNVseq screen genomic insertions deletions. In one family, revealed only single mutated allele wild-type not transcribed. CNV detection by whole genome (CNVseq) 54.7 kb duplication encompassing exons 1 4 FAM20A. This study confirms link between biallelic characteristic phenotype. It highlights first time examples missed most commonly mutation techniques. information informed assessment ongoing clinical care.
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