Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

We report a new severe fetal case of CS with distal arthrogryposis due to neuromuscular spindle excess, confirmed by the detection of the p.Gly12Val mutation in HRAS gene. This case emphasizes the fact that HRAS is the only gene responsible for neuromuscular spindle excess, underlines a correlation between p.Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis.
PMID: 28455154 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - April 25, 2017 Category: Genetics & Stem Cells Authors: Quélin C, Loget P, Rozel C, D'Hervé D, Fradin M, Demurger F, Odent S, Pasquier L, Cavé H, Marcorelles P Tags: Eur J Med Genet Source Type: research