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A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity.
Cipriano, Lorenzo; Russo, Roberta; Andolfo, Immacolata; Manno, Mariangela; Piscopo, Raffaele; Iolascon, Achille; Piscopo, Carmelo.
Afiliação
  • Cipriano L; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
  • Russo R; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
  • Andolfo I; CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.
  • Manno M; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
  • Piscopo R; CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.
  • Iolascon A; Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy.
  • Piscopo C; CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy.
Genes (Basel) ; 15(9)2024 Sep 09.
Article em En | MEDLINE | ID: mdl-39336775
ABSTRACT

BACKGROUND:

The STAG1 gene encodes a component of the cohesin complex, involved in chromosome segregation and DNA repair. Variants in genes of the cohesin complex determine clinical conditions characterized by facial dysmorphisms, upper limb anomalies, intellectual disability, and other neurological deficits. However, to date, the STAG1-related clinical phenotype has been poorly investigated (around 20 cases reported). METHODS AND

RESULTS:

We report, for the first time, two twins affected by a syndromic neurodevelopmental disorder associated with a de novo variant in the STAG1 gene. Although both the twins showed a neurodevelopmental delay, one of them showed a more severe phenotype with greater behavioral problems, speech defects and limb apraxia. CGH array showed a 15q13.3 microduplication, inherited from an unaffected mother.

CONCLUSIONS:

We found different degrees of behavioral, speech and cognitive impairment in two twins affected by a neurodevelopmental disorder associated with a STAG1 variant. These findings highlight the variability of the STAG1-associated phenotype or a probable role of associated variants (like the discovered 15q13.3 microduplication) in modulating the clinical features.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Proteínas de Ciclo Celular / Transtornos do Neurodesenvolvimento Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Proteínas de Ciclo Celular / Transtornos do Neurodesenvolvimento Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Itália País de publicação: Suíça