Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.
15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
autism
developmental delays
imprinting
motor delays
parent-of-origin effects
phenotype-genotype correlation
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
22 Mar 2019
22 Mar 2019
Historique:
received:
15
02
2019
revised:
20
03
2019
accepted:
21
03
2019
entrez:
27
3
2019
pubmed:
27
3
2019
medline:
18
7
2019
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 30909440
pii: ijms20061459
doi: 10.3390/ijms20061459
pmc: PMC6470921
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : P20 GM104936
Pays : United States
Organisme : NIH HHS
ID : S10 OD021743
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090216
Pays : United States
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