The KDM6B mutation: Phenotype and clinical characteristics-Report of a case.

Autor: Insa Pineda I; Child and Adolescent Psychiatry and Psychology, Department of Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Children and Adolescent Mental Health Research Group (Consolidated group 2017 SGR 964), Institut de Recerca Sant Joan de Déu, Spain. Electronic address: iinsa@sjdhospitalbarcelona.org., Gómez González CL; Child and Adolescent Psychiatry and Psychology, Department of Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Jazyk: English; Spanish; Castilian
Zdroj: Revista de psiquiatria y salud mental [Rev Psiquiatr Salud Ment (Engl Ed)] 2021 Jan 12. Date of Electronic Publication: 2021 Jan 12.
DOI: 10.1016/j.rpsm.2020.12.005
Abstrakt: Introduction: Alterations in the genes of lysine methylation as Lysine-specific demethylase 6B (KDM6B) have been associated with multiple neurodevelopmental disorders. Until now, there are few cases in the literature attributed to KDM6B mutations. This gap may be due to the fact that the exome sequencing technique is still being implemented in routine clinical practice.
Material and Methods: A case is presented with its clinical and phenotypic characteristics. The sequence exome analysis was done with the Nimblegen SeqCap EZ MedExome capture kit+mtDNA 47Mb. The psychopathological approach from mental health was carried out through individual and family interviews, the Conner's questionnaires, ADHD rating scale, as well as the psychometry.
Results: A frameshift variant in the KDM6B gene related to neurodevelopmental disorders with facial and body dysmorphia was obtained. The case was oriented as a neurodevelopmental disorder secondary to a genetic alteration and a comorbid Attention Deficit Hyperactivity Disorder (ADHD).
Conclusions: The clinical peculiarities shared by patients identified with the KDM6B mutation, raises the need to recognize it as a particular entity. The possibility of applying the exome sequencing technique to patients with syndromic phenotype and developmental impairment may clarify its etiopathogenesis. It is highly probable that the complexity of these cases requires an approach by a multidisciplinary team that includes genetics, neurology and psychiatry, among other specialties. The coordinated approach is essential to have a comprehensive vision of the case.
(Copyright © 2021 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.)
Databáze: MEDLINE
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