17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.

Authors:
Dr Jehan Suleiman, MD FRACP PhD
Dr Jehan Suleiman, MD FRACP PhD
University of Sydney
Pediatrics, Paediatric Neurology
Australia
Tamam E Khalaf
Tamam E Khalaf
University of Toronto Mississauga
Mississauga | Canada
Shivendra Kishore, PhD
Shivendra Kishore, PhD
University of Basel
Dr
Basel | Switzerland
Arndt Rolfs
Arndt Rolfs
University of Rostock
Germany
Ayman W El-Hattab
Ayman W El-Hattab
United States

BMC Med Genet 2017 10 25;18(1):119. Epub 2017 Oct 25.

Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.

Background: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23.2q23.3 located distal to the TBX2 and TBX4 region.

Case Presentation: We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements). Chromosomal microarray revealed a 2-Mb duplication of chromosome 17q23.2q23.3. Both parents did not have the duplication indicating that this duplication is de novo in the child.

Conclusions: The duplicated region encompasses 16 genes. It is possible that increased dosage of one or more genes in this region is responsible for the observed phenotype. The TANC2 gene is one of the genes in the duplicated region.It encodes a member of the TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing) family which includes TANC1 and TANC2. These proteins are highly expressed in brain and play major roles in synapsis regulation. Hence, it is suggestive that TANC2 is the likely candidate gene responsible for the observed phenotype as an increased TANC2 dosage can potentially alter synapsis, resulting in neuronal dysfunction and the neurobehavioral phenotype observed in this child with 17q23.2q23.3 duplication.

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Source
http://dx.doi.org/10.1186/s12881-017-0479-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5657100PMC

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October 2017
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