RESUMO
Adverse drug reactions occur at a high rate in hospitalized children, frequently due to antiepileptic drug administration. Phenytoin is a commonly used drug, and its metabolism is mediated by a specific cytochrome-P450 isoform, CYP2C9, which is encoded by a polymorphic gene. It is worth noting that very frequently administered drugs, such as proton pump inhibitors, compete with phenytoin for CYP2C19-mediated metabolism. Here we describe a case of phenytoin intoxication in a child with defective CYP2C9, after omeprazole administration.
Assuntos
Citocromo P-450 CYP2C9/metabolismo , Omeprazol/administração & dosagem , Fenitoína/efeitos adversos , Pré-Escolar , Citocromo P-450 CYP2C19/metabolismo , Citocromo P-450 CYP2C9/genética , Interações Medicamentosas , Genótipo , Humanos , Fenitoína/sangue , Polimorfismo GenéticoAssuntos
Acne Vulgar/genética , Agenesia do Corpo Caloso/genética , Síndromes Orofaciodigitais/genética , Proteínas/genética , Acne Vulgar/etiologia , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/etiologia , Feminino , Mutação da Fase de Leitura , Humanos , Lactente , Ventrículos Laterais/anormalidades , Ventrículos Laterais/diagnóstico por imagem , Síndromes Orofaciodigitais/complicações , Síndromes Orofaciodigitais/diagnósticoRESUMO
The original version of this article contained a mistake in the affiliation of E. Bellacchio. Correct affiliation is presented here.
RESUMO
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Fenótipo , Proteína-Arginina N-Metiltransferases/genética , Adolescente , Alelos , Hibridização Genômica Comparativa , Consanguinidade , Feminino , Estudos de Associação Genética/métodos , Genótipo , Humanos , Cariótipo , Masculino , Linhagem , Radiografia , Adulto JovemAssuntos
Éxons/genética , Proteínas de Membrana/genética , Mutação/genética , Síndrome de Wolfram/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , Família , Feminino , Homozigoto , Humanos , Itália , Masculino , Proteínas de Membrana/química , Dados de Sequência Molecular , Linhagem , Adulto JovemRESUMO
Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in skin, hair and teeth biology and in the fine-tuning morphogenesis of craniofacial (lip/palate) and limbs is yet to be outlined prompting future research. We propose refer to these entities (nectin 1-ED and nectin 4-ED) as "nectinopathies", which are likely to be underestimated/underdiagnosed ED syndomes.
