First documented case of Myhre syndrome in Romania: A case report.

Autor: Cătană A; Department of Oncogenetics, Institute of Oncology I. Chiricuță, 4000015 Cluj-Napoca, Romania.; Department of Molecular Sciences, University of Medicine and Pharmacy, 4000012 Cluj-Napoca, Romania.; Department of Medical Genetics, Genetic Center Laboratory, Regina Maria, 011376 Bucharest, Romania., Simonescu-Colan R; Department of Oncogenetics, Institute of Oncology I. Chiricuță, 4000015 Cluj-Napoca, Romania., Cuzmici-Barabaș Z; Department of Molecular Sciences, University of Medicine and Pharmacy, 4000012 Cluj-Napoca, Romania.; Department of Medical Genetics, Genetic Center Laboratory, Regina Maria, 011376 Bucharest, Romania., Militaru D; Department of Molecular Sciences, University of Medicine and Pharmacy, 4000012 Cluj-Napoca, Romania., Iordănescu I; Department of Medical Genetics, Genetic Center Laboratory, Regina Maria, 011376 Bucharest, Romania., Militaru MS; Department of Molecular Sciences, University of Medicine and Pharmacy, 4000012 Cluj-Napoca, Romania.; Department of Medical Genetics, Genetic Center Laboratory, Regina Maria, 011376 Bucharest, Romania.
Jazyk: angličtina
Zdroj: Experimental and therapeutic medicine [Exp Ther Med] 2022 May; Vol. 23 (5), pp. 323. Date of Electronic Publication: 2022 Mar 10.
DOI: 10.3892/etm.2022.11252
Abstrakt: Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder, characterized by developmental delay, characteristic facial features, various bone and joint abnormalities, distinctive cardiovascular, ophthalmological and ear, nose and throat (ENT) manifestations, in association with mild to moderate intellectual disability and autism or autism spectrum disorder-like behaviour. The diagnosis of Myhre syndrome is established corroborating the clinical findings with SMAD4 heterozygous mutation identified in the majority of the patients. SMAD4 gene mutations result in abnormal TGF-β signalling in several cell types, which affects the development of several body systems and leads to the specific phenotype of Myhre syndrome. We herein report the case of an 18-year-old female patient who was diagnosed at the age of 17 years with Myhre syndrome, the first documented case of this syndrome in Romania. Sequence analysis of protein-coding genes using whole-exome analysis identified a ' de novo ', heterozygous missense variant of SMAD4 , c.1498A>G, p. (Ile500Val), which is pathogenic for Myhre syndrome. Although this condition is rare, a series of particularities were identified in the present case, consisting of severe allergic reactions, recurrent ENT tumour development and delayed dental eruption, which have not been described in Myhre syndrome to date, to the best of the authors' knowledge.
Competing Interests: The authors declare that they have no competing interests.
(Copyright: © Cătană et al.)
Databáze: MEDLINE
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