ArticleEuropean journal of human genetics : EJHG2014
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 57 citations in OpenAlex.
- Review
- Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling.Nature genetics · 2025Article
- Autonomic failure associated with 16p11.2 duplication in two siblings.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
- Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.International journal of molecular sciences · 2023Article
- Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis.International journal of molecular sciences · 2023Article
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Article
- Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.BMC medical genomics · 2021Article
- Article
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Molecular psychiatry · 2020Article
- Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.Case reports in pediatrics · 2020Article
- Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.European journal of human genetics : EJHG · 2018Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.Biology open · 2014Article
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11 authors at 2 institutions in 1 country.
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Abstract
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum disorder, epilepsy, and obesity, but also apparently normal phenotype. We report on a 16-year-old patient with developmental delay, exhibiting retinis pigmentosa with progressive visual failure from the age of 9 years, ataxia, and peripheral neuropathy. Chromosomal microarray analysis identified a 1.7-Mb 16p11.2 deletion encompassing the 593-kb common deletion (∼29.5 to ∼30.1 Mb; Hg18) and the 220-kb distal deletion (∼28.74 to ∼28.95 Mb; Hg18) that partially included the CLN3 gene. As the patient's clinical findings were different from usual 16p11.2 microdeletion phenotypes and showed some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, OMIM 204200), we suspected and confirmed a mutation of the remaining CLN3 allele. This case further illustrates that unmasking of hemizygous recessive mutations by chromosomal deletion represents one explanation for the phenotypic variability observed in chromosomal deletion disorders.
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