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Abstract
BackgroundDeletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of 17p11.2 deletion/duplication in Chinese children with development delay and in fetuses with potential congenital defects.Methods7077 children with development delay and/or intellectual disability were screened by multiplex ligation-dependent probe amplification P245 assay. 7319 fetuses with potential congenital defects were tested using next generation sequencing technique.Results417 of 7077 pediatric patients were determined to carry chromosome imbalance. 28 (28/7077, 0.4%) cases had imbalance at chromosome 17p11.2. Among them, 12 cases (42.9%) had heterozygous deletions and 16 cases (57.1%) had heterozygous duplications. The clinical phenotypes were variable, including neurobehavioral disorders, craniofacial/skeletal anomalies, immunologic defects, ocular problems and organ malformations. 263 of 7319 fetuses were recognized to have genomic copy number variations. Only 2 of them were found to harbor 17p11.2 imbalance. The fetus with deletion presented with ventricular septal defect and the fetus with duplication had cerebral ventricle dilation.ConclusionOur study highlights the phenotypic variability associated with 17p11.2 variations in China. The results further expand the phenotypic spectrum of SMS/PTLS and increase awareness of these disruptive mutations among clinicians.
Highlights
Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders
Molecular analysis multiplex ligation-dependent probe amplification (MLPA) P245 assay was used to screen on 7077 pediatric patients with intellectual disability and/or development delay
Retinoic acid-induced 1 (RAI1), LRRC48 and LLGL scribble cell polarity complex component 1 (LLGL1) probes were abnormal in all the patients with 17p11.2 imbalance
Summary
Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. Chromosome 17 band p11.2 is an unstable region that is prone to nonallelic homologous recombination (NAHR). This can produce recurrent deletion or duplication within the region and contribute to copy number variation (CNV) of corresponding gene clusters [1]. Genomic disorders map to this region are two syndromes, SmithMagenis syndrome (SMS, OMIM #182290) and PotockiLupski syndrome (PTLS, OMIM #610883) [2, 3], which are caused in most cases by an approximately 3.7 Mb reciprocal deletion and duplication [4]. The symptoms of PTLS are considered to be infantile hypotonia, sleep apnea, congenital cardiovascular anomalies, learning disabilities, short stature, and failure to thrive [7]
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