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Background  The  CHL1  gene codes for a member of the L1 family of neural cell adhesion molecules. It is highly expressed in the central and peripheral nervous system playing an important role in the building and functioning on the brain. CHL1 proteins are also involved in axonal migration, synaptic formation and plasticity. In mice, functional studies showed that the haploinsufficiency of Chl1 gene in the developing brain results in cognitive deficits suggesting that the  CHL1  gene at 3p26.3 is a candidate for an autosomal form of intellectual disability. Furthermore, in humans deletions of  CHL1  have been described in patients with neurodevelopmental delay characterized by learning and language difficulties, seizures. Less is known about the potential effect of  CHL1  overexpression, and microduplications of  CHL1  have been rarely identified.    Case presentation  In this report, we describe a male patient with a phenotype characterized by developmental delay, symptoms of hyperactivity, short attention span and speech delay. In addition, minor facial dysmorphic features have been observed. Chromosomal microarray analysis revealed a rare  de novo  0.85 Mb microduplication on the short arm (p26.3) of chromosome 3, encompassing a single gene,  CHL1 . To the best of our knowledge, duplication of chromosome 3p26.3, including only the  CHL1  gene, has been described in only one intellectually disabled girl with epilepsy. The duplication described here is the smallest reported so far. In addition, this is the first report describing a patient in which the  CHL1  duplication is a  de novo  event.    Conclusions  The clinical and molecular findings reported here are useful to provide further evidence that  CHL1  is a dosage sensitive gene suggesting that not only the deletion but also its duplication can cause non-syndromic neurodevelopmental phenotypes.

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes