- Research Article
- 10.35407/bag.2024.35.02.02
VARIANTE DEL GEN KMT5B Y LA DISCAPACIDAD DEL DESARROLLO INTELECTUAL AUTOSÓMICO DOMINANTE 51. REPORTE DE UN CASOY CONSIDERACIONES DE LA INTERPRETACIÓN CLÍNICA
- Dec 01, 2024
- Journal of Basic and Applied Genetics
- S.g Ratti + 7 more +7
The intellectual developmental disorder (IDD) is a disruption of the neurodevelopment which is characterized by a decrease in the ability for reasoning and understanding abstract and complex information. IDD can occur either isolated or in conjunction with other neurodevelopmental disorders such as autism, motor disruptions, sensorial disruptions, dreaming and feeding disruptions. The objective of the present communication is to expand the knowledge about the phenotype-genotype relationship so far scarcely described in variants of the KMT5B gene, and also to contribute to the understanding of the clinical implications of neurodevelopmental disorders. A clinical case is presented of a female child referred for medical consultation due to maturational delay. Her medical history included a prenatal echography diagnostic of intrauterine growth delay. During physical examination a cephalic perimeter of -2 SD and slight dysmorphias were observed as positive signs. In addition, her reddish hair color, very white skin, hypoplasia of the nails, and an irregular border café-au-lait spot on the left iliac fossa were particularly noticeable. A molecular genetic study for genes involved in autism spectrum disorder was requested. A variant of uncertain significance was detected in the KMT5B gene. The phenotype presented by the patient contributes to the so far scarce description of the genotype-phenotype relationship of KMT5B gene variants. It is proposed to extend the phenotypic characterization of the gene by including information on the alteration in epigenetic regulation and neighbor genes that share the locus of the gene under study. Key words: autism, dominant, intellectual disability in development, KMT5B gen, neurodevelopment
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