Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene.
BMC Neurol
; 23(1): 365, 2023 Oct 10.
Article
en En
| MEDLINE
| ID: mdl-37817104
ABSTRACT
BACKGROUND:
Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. CASE PRESENTATION Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient's CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene.CONCLUSIONS:
This is the first case reporting Tourette-like syndrome secondary to KS1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1.Palabras clave
Texto completo:
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Base de datos:
MEDLINE
Asunto principal:
Síndrome de Tourette
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Tics
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Cardiopatías Congénitas
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Discapacidad Intelectual
Idioma:
En
Revista:
BMC Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2023
Tipo del documento:
Article