Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals
| Autor: | Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah |
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| Přispěvatelé: | University of Zurich, Ehmke, Nadja |
| Rok vydání: | 2020 |
| Předmět: |
Adult
bronchomalacia 2716 Genetics (clinical) hyperphalangism Pediatrics medicine.medical_specialty Adolescent 10039 Institute of Medical Genetics 610 Medicine & health Chitayat syndrome Fingers Young Adult 03 medical and health sciences 1311 Genetics respiratory distress Exome Sequencing Genetics medicine Humans Missense mutation Genetic Predisposition to Disease Hallux Valgus Respiratory system Child Genetics (clinical) 030304 developmental biology CHITAYAT SYNDROME 0303 health sciences Pierre Robin Syndrome biology Respiratory distress business.industry 030305 genetics & heredity Facies medicine.disease biology.organism_classification Phenotype 3. Good health Repressor Proteins Valgus ERF Child Preschool ulnar deviation 570 Life sciences Female Ulnar deviation Bronchomalacia business |
| Zdroj: | American Journal of Medical Genetics Part A Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61735 |
| Popis: | Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the recurrent heterozygous missense variant NM_006494.2:c.266A>G; p.(Tyr89Cys) in ERF on chromosome 19q13.2, encoding the ETS2 repressor factor (ERF) protein. The pathomechanism of Chitayat syndrome is unknown. To date, seven individuals with Chitayat syndrome and the recurrent pathogenic ERF variant have been reported in the literature. Here, we describe six additional individuals, among them only one presenting with a history of assisted ventilation, and the remaining presenting with variable pulmonary phenotypes, including one individual without any obvious pulmonary manifestations. Our findings widen the phenotype spectrum caused by the recurrent pathogenic variant in ERF, underline Chitayat syndrome as a cause of isolated skeletal malformations and therefore contribute to the improvement of diagnostic strategies in individuals with hand hyperphalangism. |
| Databáze: | OpenAIRE |
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