De novo 5q35.5 duplication with clinical presentation of Sotos syndrome

We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and...

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Published in:American journal of medical genetics. Part A 2011-10, Vol.155 (10), p.2501-2507
Main Authors: Kasnauskiene, Jurate, Cimbalistiene, Loreta, Ciuladaite, Zivile, Preiksaitiene, Egle, Kučinskienė, Zita Aušrelė, Hettinger, Joe A., Sismani, Carolina, Patsalis, Philippos C., Kučinskas, Vaidutis
Format: Article
Language:English
Subjects:
arrayCGH
Biological and medical sciences
Brain - pathology
Child, Preschool
Chromosome Duplication - genetics
Chromosome rearrangements
Chromosomes, Human, Pair 5 - genetics
Comparative Genomic Hybridization
Cytogenetic Analysis
duplication
Female
genomics
Humans
Intracellular Signaling Peptides and Proteins - genetics
Magnetic Resonance Imaging
Medical genetics
Medical sciences
Nsd1 gene
Nuclear Proteins - genetics
overgrowth
Pathogenicity
Phenotype
Regulatory sequences
Sotos syndrome
Sotos Syndrome - genetics
Sotos Syndrome - pathology
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Summary:We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication. The duplication is located right downstream from the NSD1 gene, a region which appears critical for the expression of the gene as regulatory elements might be disrupted or the expression of a not amplified critical gene might be otherwise affected by the duplicated region. Thus, in the process of evaluating identified CNVs attention should be drawn to the possible influence of chromosomal rearrangement on distant genes, which could add additional diversity to genomic disorders. Our case demonstrates that evaluation of the size of chromosomal alteration and gene content are not sufficient for assessment of CNV's pathogenicity and the context of adjacent genes should be considered. © 2011 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.34179