Char Syndrome a novel mutation and new insights: A clinical report
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Elsevier Masson SAS
Abstract
Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant disorder comprising facial dysmorphism, hand anomalies, and patent ductus arteriosus (PDA). In this report, we describe a proband with a de novo TFAP2B frameshift mutation c.650delG p.(Gly217Alafs*32) in the basic domain. The proband presented mainly with musculoskeletal features of Char syndrome. No PDA was identified at presentation suggesting that this syndrome may prove to be phenotypically heterogeneous. This report will help illustrate the genotype/phenotype correlation of TAFB2 mutations and better delineate the clinical features in Char syndrome. © 2018
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Keywords
Char syndrome, Mutation, Patent ductus arteriosus, Transcription factor ap-2 beta, Abnormalities, multiple, Ductus arteriosus, patent, Face, Fingers, Humans, Infant, Male, Phenotype, Transcription factor ap-2, Transcription factor, Transcription factor ap 2beta, Unclassified drug, Tfap2b protein, human, Transcription factor ap 2, Adolescent, Article, Case report, Clinical article, Clinical feature, Clinodactyly, Color doppler echocardiography, Congenital disorder, Frameshift mutation, Genotype phenotype correlation, Human, Karyotype, Nucleotide sequence, Small for date infant, Whole exome sequencing, Finger, Genetics, Multiple malformation syndrome, Pathology