Char syndrome is an autosomal dominant congenital disease caused by mutations in TFAP2B gene which affects the development of the bones of the face as well as the heart and limbs.[2][3] During embryo development, TFAP2B regulates the production of the protein AP-2β, a transcription factor that is active in the neural crest and helps regulate genes that control cell division and apoptosis.[4] There are at least 10 mutations of this gene that have been identified in people presenting Char syndrome,[5][6] which alters specific regions of the gene preventing production of the transcription factor and disrupting normal development of embryo structures. People with this condition present a very distinct facial appearance with flattened cheek bones, flat and broad tip nose, shortened distance between the nose and upper lip, triangular-shaped mouth with tick lips and strabismus. It is also characterized by a patent ductus arteriosus, which is the failure to close the ductus that connects the aorta and pulmonary artery during pre-birth life and may cause many symptoms including breathing issues and heart failure. Abnormalities of hand and finger development have also been reported in people with this condition, including short or absent fifth finger. Other abnormal findings include supernumerary nipples.[7] These conditions often affect multiple members of a family and there are no reports of non-genetic factors that might be related with incidence of this syndrome. It was first described by Florence Char in 1978.[8]
| Char syndrome | |
|---|---|
| Other names | Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits[1] |
| Specialty | Medical genetics  |
References
edit- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Char syndrome". www.orpha.net. Retrieved 27 October 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Char, F. (1978). "Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?". Birth Defects Original Article Series. 14 (6B): 303–305. ISSN 0547-6844. PMID 728571.
- ^ "Char syndrome". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center, National Center for Advancing Translational Sciences. Retrieved 2019-04-15.
- ^ Buettner, R.; Schule, R.; Hofstadter, F.; Sinowatz, F.; Amselgruber, W.; Bauer, R.; Pscherer, A.; Imhof, A.; Moser, M. (1995-09-01). "Cloning and characterization of a second AP-2 transcription factor: AP-2 beta". Development. 121 (9): 2779–2788. doi:10.1242/dev.121.9.2779. ISSN 0950-1991. PMID 7555706.
- ^ Satoda, Masahiko; Pierpont, Mary Ella M.; Diaz, George A.; Bornemeier, Renee A.; Gelb, Bruce D. (1999-06-15). "Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21". Circulation. 99 (23): 3036–3042. doi:10.1161/01.cir.99.23.3036. ISSN 0009-7322. PMID 10368122.
- ^ Satoda, Masahiko; Zhao, Feng; Diaz, George A.; Burn, John; Goodship, Judith; Davidson, H. Rosemarie; Pierpont, Mary Ella M.; Gelb, Bruce D. (May 2000). "Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus". Nature Genetics. 25 (1): 42–46. doi:10.1038/75578. ISSN 1061-4036. PMID 10802654. S2CID 37890243.
- ^ Zannolli, R.; Mostardini, R.; Matera, M.; Pucci, L.; Gelb, B.D.; Morgese, G. (2000). "Char syndrome: An additional family with polythelia, a new finding". American Journal of Medical Genetics. 95 (3): 201–203. doi:10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w. ISSN 0148-7299. PMID 11102923.
- ^ Satoda, Masahiko; Pierpont, Mary Ella M.; Diaz, George A.; Bornemeier, Renee A.; Gelb, Bruce D. (1999). "Char Syndrome, an Inherited Disorder with Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21". Circulation. 99 (23): 3036–3042. doi:10.1161/01.CIR.99.23.3036. PMID 10368122.