Burnside-Butler syndrome

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Burnside-Butler syndrome

Burnside-Butler syndrome, also known as 15q11.2 BP1-BP2 microdeletion, is a congenital disorder caused by microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, NIPA2).[1] It is associated with a number of developmental and psychiatric disorders, however, not all individuals are clinically affected; although more studies are needed to delineate the range of clinical presentation.[2][3]

The 15q11.2 BP1–BP2 microdeletion (Burnside-Butler syndrome) was the most common cytogenetic abnormality found in a recent study of 10,351 consecutive patients presenting for genetic laboratory testing using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders and having autism spectrum disorders (ASD).[4] It may represent an under-recognized contributor to the global prevalence of ASD. ASD is a common clinical manifestation of many rare genetic disorders, many of which can be identified by chromosome microarray analysis. The 15q11.2 BP1-BP2 microdeletion accounted for 9% of the top 85 genetic findings associated with neurodevelopmental disorders followed by the proximal 16p11.2 deletion syndrome (5%).[4]

References[edit]

  1. ^ "Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome - IOS Press". doi:10.3233/pge-14082. PMC 4190059.
  2. ^ Cox, Devin M.; Butler, Merlin G. (2015-02-13). "The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review". International Journal of Molecular Sciences. 16 (2): 4068–4082. doi:10.3390/ijms16024068. PMC 4346944. PMID 25689425.
  3. ^ "OMIM Entry - # 615656 - CHROMOSOME 15q11.2 DELETION SYNDROME". www.omim.org. Retrieved 2015-10-02.[permanent dead link]
  4. ^ a b Ho, Karen S.; Wassman, E. Robert; Baxter, Adrianne L.; Hensel, Charles H.; Martin, Megan M.; Prasad, Aparna; Twede, Hope; Vanzo, Rena J.; Butler, Merlin G. (2016-12-09). "Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders". International Journal of Molecular Sciences. 17 (12). doi:10.3390/ijms17122070. ISSN 1422-0067. PMC 5187870. PMID 27941670.