Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene
| Autor: | Alan Caro-Contreras, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Juan F Ahumada-Pérez |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Heterozygote Respiratory complications 030105 genetics & heredity Biology 03 medical and health sciences Pectus Carinatum Databases Genetic Genetics medicine Humans Missense mutation Gene Genetics (clinical) Heterozygous mutation Arthrogryposis CHITAYAT SYNDROME Infant Newborn Infant medicine.disease Phenotype Molecular analysis Repressor Proteins 030104 developmental biology Child Preschool Pectus carinatum Female |
| Zdroj: | American Journal of Medical Genetics Part A. 179:118-122 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.60676 |
| Popis: | Chitayat syndrome (CHYTS, MIM #617180) is a rare autosomal dominant clinical condition caused by a single missense pathogenic variant in the ERF gene (19q13.2, MIM*611888), which encodes the ETS2 Repressor Factor (ERF) protein. The characteristic features reported to date for this condition are facial dysmorphism, hyperphalangism and respiratory complications during the newborn period. Herein, we report the sixth patient worldwide with a confirmed molecular diagnosis of CHYTS. Our documentation of pectus carinatum, hypoplastic phalanges (as in two previously described patients), and lack of hyperphalangism broadens the phenotypic spectrum of CHYTS. Moreover, our identification of a heterozygous mutation [c.266A>G or p.(Tyr89Cys)] [rs886041001] in this patient provides further evidence that this condition is caused by a recurrent pathogenic variant in ERF. |
| Databáze: | OpenAIRE |
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