CENPJ mutation in heterozygous and VUS in ANKRD11 and KIF5C in one symptomatic child

01 January 1970 0 2K Report

Has anyone encountered a patient with a heterozygous mutation (pathogenic) in the CENPJ gene and observed symptoms? Or a VUS variant in ANKRD11?

I have a patient with hydrocephalus (Chiari type II), arms, hands, feet and legs with reduced length, scoliosis, macrocephaly, lowering of the ears, increased nasal length, Myelomeningocele and hypertelorism. Patient presents has two variants VUS in ANKRD11 and KIF5C genes too.

Someone has a patient like that?

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