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.
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| http://dx.doi.org/10.1016/j.ejmg.2018.12.012 | DOI Listing |
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[Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2024
Department of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China.
Objective: To explore the clinical features and genetic etiology of a child with Char syndrome.
Methods: A child who was presented at the Department of Child Health, Henan Children's Hospital in February 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA.
Human Genetics of Ventricular Septal Defect.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
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- Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
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[Research progress of genetic research on Char syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2024
School of Life Science, Central South University, Changsha, Hunan 410013, China.
Char syndrome is a rare autosomal dominant genetic disorder characterized by patent ductus arteriosus, facial dysmorphism, and dysplasia of fingers/toes. It may also be associated with multiple papillae, dental dysplasia, and sleep disorders. TFAP2B has proven to be a pathogenic gene for neural crest derivation and development, and several variants of this gene have been identified.
View Article and Find Full Text PDFTFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway.
Development
January 2024
Iowa Institute for Oral Health Research, College of Dentistry and Dental Clinics, University of Iowa, Iowa City, IA 52242, USA.
Cranial neural crest development is governed by positional gene regulatory networks (GRNs). Fine-tuning of the GRN components underlies facial shape variation, yet how those networks in the midface are connected and activated remain poorly understood. Here, we show that concerted inactivation of Tfap2a and Tfap2b in the murine neural crest, even during the late migratory phase, results in a midfacial cleft and skeletal abnormalities.
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