Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly

Definition:

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst.

References:

[1]. M-L Bondeson, et al. A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy. Clin Genet. 2017 Nov;92(5):510-516. [Content Brief]

[2]. Patrick Frosk, et al. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet. 2017 Jul;54(7):490-501. [Content Brief]

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