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  Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Suter, A.-A., Santos-Simarro, F., Mathiesen Toerring, P., Abad Perez, A., Ramos-Mejia, R., Heath, K. E., et al. (2020). Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A, 182(9), 2068-2076. doi:10.1002/ajmg.a.61735.

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 Creators:
Suter , Aude-Annick 1, Author
Santos-Simarro , Fernando , Author
Mathiesen Toerring, Pernille , Author
Abad Perez , Angela 1, Author
Ramos-Mejia, Rosario , Author
Heath, Karen E., Author
Huckstadt , Victoria , Author
Parrón-Pajares, Manuel , Author
Atta Mensah, Martin1, Author
Hülsemann, Wiebke , Author
Holtgrewe, Manuel , Author
Mundlos, Stefan1, 2, Author              
Kornak, Uwe1, Author
Bartsch, Oliver , Author
Ehmke, Nadja1, Author
Affiliations:
1Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany, ou_persistent22              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Chitayat syndrome; ERF; bronchomalacia; hyperphalangism; respiratory distress; ulnar deviation
 Abstract: 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.

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Language(s): eng - English
 Dates: 2020-05-242020-06-272020-09
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1002/ajmg.a.61735
PMID: 32592542
 Degree: -

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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: 9 Volume / Issue: 182 (9) Sequence Number: - Start / End Page: 2068 - 2076 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465