De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.

Maslennikov, Dmitry; Tolmacheva, Ekaterina; Shubina, Jekaterina; Vasiliev, Grigory; Rogacheva, Margarita; Svirepova, Ksenia; Trofimov, Dmitry

Maslennikov, Dmitry; Tolmacheva, Ekaterina; Shubina, Jekaterina; Vasiliev, Grigory; Rogacheva, Margarita; Svirepova, Ksenia; Trofimov, Dmitry.

Afiliação

Maslennikov D; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Tolmacheva E; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Shubina J; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Vasiliev G; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Rogacheva M; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Svirepova K; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.
Trofimov D; National Medical Research Center for Obstetrics, Gynecology and Perinatology of the Ministry of Health of the Russian Federation, Moscow, Russia.

Clin Genet ; 105(6): 683-685, 2024 Jun.

Article em En | MEDLINE | ID: mdl-38511226

ABSTRACT

ABSTRACT

A case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.

Assuntos

Proteínas de Ciclo Celular; Síndrome de DiGeorge; Chaperonas de Histonas; Feminino; Humanos; Recém-Nascido; Masculino; Agenesia do Corpo Caloso/genética; Proteínas de Ciclo Celular/genética; Síndrome de DiGeorge/genética; Síndrome de DiGeorge/patologia; Sequenciamento do Exoma; Chaperonas de Histonas/genética; Fenótipo; Tetralogia de Fallot/genética; Fatores de Transcrição/genética; Adulto; Linhagem

Palavras-chave

DiGeorge syndrome; HIRA; startloss; tetralogy of Fallot

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Síndrome de DiGeorge / Chaperonas de Histonas Limite: Adult / Female / Humans / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Federação Russa

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