Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Maude GreletVéronique BlanckSabine SigaudyNicole PhilipFabienne GiulianoKhaoula KhachnaouiGodelieve MorelSarah GrottoJulia SophieCéline PoirsierJames LespinasseLaurent AlricPatrick CalvasGihane ChalhoubValérie LayetArnaud MolinCindy ColsonLuisa MarsiliPatrick EderyNicolas LévyAnnachiara De Sandre-GiovannoliPublished in: Orphanet journal of rare diseases (2019)
High throughput sequencing using the Laminopathies/ Premature Aging disorders panel allowed molecular diagnosis of rare disorders associated with premature aging features and genetic counseling for families, representing an interesting first-level analysis before whole genome sequencing may be proposed, as a future second step, by the National high throughput sequencing platforms ("Medicine France Genomics 2025" Plan), in families without molecular diagnosis.