关键词: QRICH1 Ververi-Brady syndrome chondrodysplasia developmental delay impaired growth

Mesh : Child Child, Preschool Chromosomes, Human, Pair 3 / genetics DNA-Binding Proteins / genetics Developmental Disabilities / genetics pathology Female Humans Infant Intellectual Disability / genetics pathology Language Development Disorders / genetics pathology Loss of Function Mutation / genetics Male Phenotype Transcription Factors / genetics

来  源:   DOI:10.1002/ajmg.a.62184   PDF(Sci-hub)

Abstract:
Ververi-Brady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss-of-function variants in the glutamine-rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cases have just been described substantiating the notion that children with VBS are mildly dysmorphic, mildly to moderately intellectually disabled, have linear growth shortage, are picky eaters, and have notable attention and social behavioral deficits. We describe a new patient and review the clinical and genetic information, on all previously reported VBS cases. The child here reported is noted for maladaptive behavior, sensory hypersensitivity, and slow linear growth. He is mainly hyperactive, distractible, impulsive, and inattentive. His speech, initially delayed, is fair and his verbal comprehension age adequate.
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