FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Badura-Stronka, Magdalena; Smigiel, Robert; Rutkowska, Karolina; Szymanska, Krystyna; Hirschfeld, Adam Sebastian; Monkiewicz, Michal; Kosinska, Joanna; Wolanska, Ewelina; Rydzanicz, Malgorzata; Latos-Bielenska, Anna; Ploski, Rafal

Badura-Stronka, Magdalena; Smigiel, Robert; Rutkowska, Karolina; Szymanska, Krystyna; Hirschfeld, Adam Sebastian; Monkiewicz, Michal; Kosinska, Joanna; Wolanska, Ewelina; Rydzanicz, Malgorzata; Latos-Bielenska, Anna; Ploski, Rafal.

Afiliação

Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Smigiel R; Centers for Medical Genetics GENESIS, Poznan, Poland.
Rutkowska K; Division of Pediatrics and Rare Disorders, Department of Pediatrics, Wroclaw Medical University, Poland.
Szymanska K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Hirschfeld AS; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
Monkiewicz M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Kosinska J; Department of Radiology and Interventional Radiology, The St. John Paul II HCP Medical Centre, Poznan, Poland.
Wolanska E; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Rydzanicz M; Division of Pediatrics and Rare Disorders, Department of Pediatrics, Wroclaw Medical University, Poland.
Latos-Bielenska A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Ploski R; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

Mol Genet Genomic Med ; 10(4): e1899, 2022 04.

Article em En | MEDLINE | ID: mdl-35255187

ABSTRACT

ABSTRACT

We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.

Assuntos

Síndrome de Rett; Criança; Humanos; Mutação de Sentido Incorreto; Fenótipo; Síndrome de Rett/genética; Sobreviventes; Síndrome

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Síndrome de Rett Limite: Child / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Polônia

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