Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles

Author:

Vermeesch Joris1,Parijs Ilse2,Brison Nathalie1,Vancoillie Leen2,Janssens Katrien,Blaumeiser BettinaORCID,Baetens Machteld,Janssens Sandra3ORCID,Menten Björn4,Dimitrov Boyan,Fieremans NathalieORCID,Kim Van Berkel5,Bogaert Ann Van Den,MEUNIER Colombine6,Désir Julie,Boulanger Sebastien7,Marichal Axel,Devriendt Koenraad2ORCID,Bogaert Kris Van den2

Affiliation:

1. KU Leuven

2. UZ Leuven

3. Ghent University

4. Ghent University Hospital

5. Universitair Ziekenhuis Brussel( UZ Brussel)

6. IPG de Gosselies

7. IPG

Abstract

Abstract Maternally inherited 15q11-q13 duplications are generally found to cause more severe neurodevelopmental anomalies compared to paternally inherited duplications. However, this assessment is mainly inferred from the study of patient populations, causing an ascertainment bias. Here, we analyze the low coverage genome-wide cell-free DNA sequencing data obtained from pregnant women during non-invasive prenatal screening (NIPS). We detect 23 15q11-q13 duplications in 333,187 pregnant women (0.0069%), with an approximately equal distribution between maternal and paternal duplications. Maternally inherited duplications are always associated with a clinical phenotype (ranging from mild learning difficulties to intellectual impairment, epilepsy and psychiatric disorders), while paternal duplications are associated with milder phenotypes (from normal to learning difficulties and dyslexia). This data corroborates the difference in impact between paternally and maternally inherited 15q11-q13 duplications, contributing to the improvement of genetic counselling. We recommend reporting 15q11-q13 duplications identified during genome-wide NIPS with appropriate genetic counselling for these pregnant women in the interest of both mothers and future children.

Publisher

Research Square Platform LLC

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