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Open AccessArticle

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome

1
Lineagen, Inc., Salt Lake City, UT 84109, USA
2
Laboratory of Medical Genetics, Bambino Gesù Children’s Hospital, IRCCS, Rome 00165, Italy
3
Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, USA
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(6), 1459; https://doi.org/10.3390/ijms20061459
Received: 15 February 2019 / Revised: 20 March 2019 / Accepted: 21 March 2019 / Published: 22 March 2019
To identify whether parent-of-origin effects (POE) of the 15q11.2 BP1-BP2 microdeletion are associated with differences in clinical features in individuals inheriting the deletion, we collected 71 individuals reported with phenotypic data and known inheritance from a clinical cohort, a research cohort, the DECIPHER database, and the primary literature. Chi-squared and Mann-Whitney U tests were used to test for differences in specific and grouped clinical symptoms based on parental inheritance and proband gender. Analyses controlled for sibling sets and individuals with additional variants of uncertain significance (VOUS). Among all probands, maternal deletions were associated with macrocephaly (p = 0.016) and autism spectrum disorder (ASD; p = 0.02), while paternal deletions were associated with congenital heart disease (CHD; p = 0.004). Excluding sibling sets, maternal deletions were associated with epilepsy as well as macrocephaly (p < 0.05), while paternal deletions were associated with CHD and abnormal muscular phenotypes (p < 0.05). Excluding sibling sets and probands with an additional VOUS, maternal deletions were associated with epilepsy (p = 0.019) and paternal deletions associated with muscular phenotypes (p = 0.008). Significant gender-based differences were also observed. Our results supported POEs of this deletion and included macrocephaly, epilepsy and ASD in maternal deletions with CHD and abnormal muscular phenotypes seen in paternal deletions. View Full-Text
Keywords: 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome; imprinting; parent-of-origin effects; phenotype-genotype correlation; autism; developmental delays; motor delays 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome; imprinting; parent-of-origin effects; phenotype-genotype correlation; autism; developmental delays; motor delays
MDPI and ACS Style

Davis, K.W.; Serrano, M.; Loddo, S.; Robinson, C.; Alesi, V.; Dallapiccola, B.; Novelli, A.; Butler, M.G. Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. Int. J. Mol. Sci. 2019, 20, 1459.

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