Article
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
American journal of medical genetics. Part A - 1 Mar 2017
Dunn P, Prigatano G P, Szelinger S, Roth J, Siniard A L, Claasen A M, Richholt R F, De Both M, Corneveaux J J, Moskowitz A M, Balak C, Piras I S, Russell M, Courtright A L, Belnap N, Rangasamy S, Ramsey K, Opitz J M, Craig D W, Narayanan V, Huentelman M J, Schrauwen I
Abstract excerpt
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. Here we present a patient with a de novo carboxyl-terminus splice site mutation in CASK (c.2521-2A>G) and clinical features of the rare FG syndrome-4 (FGS4). We provide further characterization of genotype-phenotype...
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