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Deep Phenotyping in 1p36 Deletion Syndrome

Annals of Child Neurology 2020년 28권 4호 p.131 ~ 137
심영규, 고영준, 김수연, Kim Hun-Min, 황희, 최지은, 임병찬, 김기중, 채종희,
소속 상세정보
심영규 ( Shim Young-Kyu ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
고영준 ( Go Young-Jun ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
김수연 ( Kim Soo-Yeon ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
 ( Kim Hun-Min ) - Seoul National University Bundang Hospital Department of Pediatrics
황희 ( Hwang Hee ) - Seoul National University Bundang Hospital Department of Pediatrics
최지은 ( Choi Ji-Eun ) - SMG-SNU Boramae Medical Center Department of Pediatrics
임병찬 ( Lim Byung-Chan ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
김기중 ( Kim Ki-Joong ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics
채종희 ( Chae Jong-Hee ) - Seoul National University College of Medicine Seoul National University Children’s Hospital Department of Pediatrics

Abstract


Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to characterize the phenotype-genotype correlation.

Methods: We retrospectively reviewed 15 patients diagnosed with 1p36 deletion syndrome confirmed by chromosomal microarray.

Results: All 15 patients revealed delayed attainment of motor milestones and speech. Seven patients (46.7%) never walked alone and only two (13.3%) could express a simple two-word sentence. They all showed subsequent intellectual disability. Two patients with large deletions of both distal and proximal critical regions of the 1p36 region shared severe intellectual disability with Rett syndrome-like behavioral features. Seizures, although frequent (73.3%), were well-controlled except in one patient with infantile spasms. Facial dysmorphism (92.9%) and ventricular mild dilatation with corpus callosum anomaly (46.7%) were common. Heart problems were identified in 14 patients, including structural abnormalities and/or functional problems associated with the gene encoding PR domain-containing protein 16. Two patients developed severe cardiac dysfunction requiring heart transplantation in their late teens. One patient with a 400 Kb deletion partly overlapping with the gene encoding calmodulin-binding transcription activator 1 did not have facial dysmorphism and presented with mild developmental delay and ataxic gait. One patient had a choledochal cyst, which was resected due to neonatal cholestasis.

Conclusion: Although the phenotype of 1p36 deletion syndrome is quite consistent with previous reports, additional manifestations such as certain behavioral features, ataxic gait, and severe cardiac dysfunction at an early age should be considered.

키워드

Chromosome 1p36 deletion syndrome; Phenotype; Genotype

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