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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.
(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
Author
Organization
Abstract
Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. Results: Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non-consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including IGF2BP3 and DNAH2. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types. Conclusion: Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients.
Keywords
Genetics (clinical), Genetics, Molecular Biology, brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, PRENATAL-DIAGNOSIS, SEQUENCE VARIANTS, ASPM MUTATIONS, FAMILIES, PROTEIN, WDR62, HETEROGENEITY, FRAMEWORK, SNPS

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MLA
Duerinckx, Sarah, et al. “Phenotypes and Genotypes in Non‐consanguineous and Consanguineous Primary Microcephaly : High Incidence of Epilepsy.” MOLECULAR GENETICS & GENOMIC MEDICINE, vol. 9, no. 9, 2021, doi:10.1002/mgg3.1768.
APA
Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., … Abramowicz, M. (2021). Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy. MOLECULAR GENETICS & GENOMIC MEDICINE, 9(9). https://doi.org/10.1002/mgg3.1768
Chicago author-date
Duerinckx, Sarah, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, et al. 2021. “Phenotypes and Genotypes in Non‐consanguineous and Consanguineous Primary Microcephaly : High Incidence of Epilepsy.” MOLECULAR GENETICS & GENOMIC MEDICINE 9 (9). https://doi.org/10.1002/mgg3.1768.
Chicago author-date (all authors)
Duerinckx, Sarah, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, and Marc Abramowicz. 2021. “Phenotypes and Genotypes in Non‐consanguineous and Consanguineous Primary Microcephaly : High Incidence of Epilepsy.” MOLECULAR GENETICS & GENOMIC MEDICINE 9 (9). doi:10.1002/mgg3.1768.
Vancouver
1.
Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, et al. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy. MOLECULAR GENETICS & GENOMIC MEDICINE. 2021;9(9).
IEEE
[1]
S. Duerinckx et al., “Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy,” MOLECULAR GENETICS & GENOMIC MEDICINE, vol. 9, no. 9, 2021.
@article{8743476,
  abstract     = {{Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.

Methods: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients.

Results: Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non-consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including IGF2BP3 and DNAH2. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types.

Conclusion: Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients.}},
  articleno    = {{e1768}},
  author       = {{Duerinckx, Sarah and Désir, Julie and Perazzolo, Camille and Badoer, Cindy and Jacquemin, Valérie and Soblet, Julie and Maystadt, Isabelle and Tunca, Yusuf and Blaumeiser, Bettina and Ceulemans, Berten and Courtens, Winnie and Debray, François‐Guillaume and Destree, Anne and Devriendt, Koenraad and Jansen, Anna and Keymolen, Kathelijn and Lederer, Damien and Loeys, Bart and Meuwissen, Marije and Moortgat, Stéphanie and Mortier, Geert and Nassogne, Marie‐Cécile and Sekhara, Tayeb and Van Coster, Rudy and Van Den Ende, Jenny and Van der Aa, Nathalie and Van Esch, Hilde and Vanakker, Olivier and Verhelst, Helene and Vilain, Catheline and Weckhuysen, Sarah and Passemard, Sandrine and Verloes, Alain and Aeby, Alec and Deconinck, Nicolas and Van Bogaert, Patrick and Pirson, Isabelle and Abramowicz, Marc}},
  issn         = {{2324-9269}},
  journal      = {{MOLECULAR GENETICS & GENOMIC MEDICINE}},
  keywords     = {{Genetics (clinical),Genetics,Molecular Biology,brain developmental disorders,consanguinity,epilepsy,Mendeliome,primary microcephaly,rare disease,PRENATAL-DIAGNOSIS,SEQUENCE VARIANTS,ASPM MUTATIONS,FAMILIES,PROTEIN,WDR62,HETEROGENEITY,FRAMEWORK,SNPS}},
  language     = {{eng}},
  number       = {{9}},
  pages        = {{19}},
  title        = {{Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy}},
  url          = {{http://doi.org/10.1002/mgg3.1768}},
  volume       = {{9}},
  year         = {{2021}},
}
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