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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Bouassida, Malek; Molina-Gomes, Denise; Koraichi, Fairouz; Hervé, Bérénice; Lhuilier, Morgane; Duvillier, Clémence; Le Gall, Jessica; Gauthier-Villars, Marion; Serazin, Valérie; Quibel, Thibaud; Dard, Rodolphe; Vialard, François.
Afiliación
  • Bouassida M; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Molina-Gomes D; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Koraichi F; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Hervé B; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Lhuilier M; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Duvillier C; Obstetrics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Le Gall J; Genetics Department, Institut Curie, Paris, France.
  • Gauthier-Villars M; Genetics Department, Institut Curie, Paris, France.
  • Serazin V; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Quibel T; Obstetrics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Dard R; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.
  • Vialard F; RHuMA Team, UMR-BREED, UVSQ, INRAE, ENVA, Montigny le Bretonneux, France.
Mol Genet Genomic Med ; 12(4): e2437, 2024 Apr.
Article en En | MEDLINE | ID: mdl-38588252
ABSTRACT

BACKGROUND:

Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy-number-variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements. Optical genome mapping (OGM) is an emerging cytogenomic tool with proved ability to identify the full spectrum of cytogenetic aberrations.

METHODS:

Here, we report on the use of OGM in a prenatal diagnosis setting. Detailed breakpoint mapping was used to determine the relative orientations of triplicated and duplicated segments in two unrelated foetuses harbouring chromosomal aberrations a de novo 15q23q24.2 triplication and a paternally inherited 13q14.2 duplication that overlapped partially with the RB1 gene.

RESULTS:

OGM enabled us to suggest a plausible mechanism for the triplication and confirmed that the RB1 duplication was direct oriented and in tandem. This enabled us to predict the pathogenic consequences, refine the prognosis and adapt the follow-up and familial screening appropriately.

CONCLUSION:

Along with an increase in diagnostic rates, OGM can rapidly highlight genotype-phenotype correlations, improve genetic counselling and significantly influence prenatal management.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aberraciones Cromosómicas / Asesoramiento Genético Límite: Female / Humans / Pregnancy Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aberraciones Cromosómicas / Asesoramiento Genético Límite: Female / Humans / Pregnancy Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos