15q13.3 microdeletion syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

15q13.3 microdeletion syndrome. This is caused by a microdeletion of chromosome 15q13.3. Fully referenced neurology checklist.

Genetics

  • This is caused by a microdeletion of chromosome 15q13.3
  • The neurological phenotype is due to impairment of the CHRNA7 gene

Developmental features

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Behavioural features

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Ophthalmic features

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Psychiatric features

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Other features

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Differential diagnosis

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References

  1. Ziats MN, Goin-Kochel RP, Berry LN, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med 2016; 18:1111-1118. 
  2. Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet 2009; 46:382-388. 
  3. Lowther C, Costain G, Stavropoulos DJ, et al. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genet Med 2015; 17:149-157.
  4. Masurel-Paulet A, Drumare I, Holder M, et al. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. Am J Med Genet A 2014; 164A:1537-1544. 
  5. Beal JC. Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures. J Child Neurol 2014; 29:NP186-NP188.

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