Method for diagnosing a skeletal ciliopathy
AssigneesInserm (Institut National De La Sante Et De La Recherche Medicale), Assistance Publique-Hopitaux de Paris, Universite Paris Descartes, Fondation Imagine
InventorsValerie Cormier-Daire, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet, Arnold Munnich, Sophie Saunier
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Abstract
The present invention relates to a method for diagnosing a skeletal ciliopathy.
Claims14
A method for diagnosing a skeletal ciliopathy in a subject, said method comprising detecting a mutation in the IFT140 gene in a biological sample obtained from said subject, wherein the presence of an IFT140 mutation is indicative of a skeletal ciliopathy or a risk of having a skeletal ciliopathy.
A method for predicting a risk of a subject to transmit a skeletal ciliopathy to his infants, said method comprising detecting a mutation in the IFT140 gene in a biological sample obtained from said subject, wherein the presence of an IFT140 mutation is indicative of a risk of transmitting a skeletal ciliopathy.
A method for detecting a subject carrying a defective IFT140 gene, which method comprises detecting a mutation in the IFT140 gene in a biological sample obtained from said subject.
(canceled)
A method for treating a skeletal ciliopathy with comprises the step of administering a IFT140-encoding polynucleotide to a patient in need thereof.
A transgenic non-human animal which is IFT140-deficient.
Dependencies are inferred from the claim text.