This<unk>  appears to be inherited in an autosomal dominant fashion; however, X-linked inheritance has not been completely ruled out. Males diagnosed with Lehman<unk>  were effected the same as females causing the believed inheritance pattern to be autosomal dominant, not X-linked. Lehman<unk>  is associated with the heterozygous truncating mutation on exon33 of the Notch 3 gene located on chromosome 19p13. The mutation was found using whole-exome sequencing and confirmed with Sanger sequencing. Molecular analyses suggest that the causative mutations cause a truncation of the protein. These mutations result in the loss of PEST sequence in the protein. This loss is associated with a prolonged half life of the protein and therefore an increase in signaling effects. Mutations in Notch 3 were found to be associated with this<unk> . Notch 3 produces the Notch 3 protein, a receptor protein in which ligands bind to control gene activity in a cell's nucleus. The Notch 3 gene is a part of the Notch family of genes which are associated with cell differentiation and function. The Notch 3 mutation is a truncating mutation because it results in the loss of the intracellular end of the Notch 3 protein known as the Notch 3 intracellular domain, NICD. This section of the truncated NCID is responsible for disintegration of the NCID after it has gone into the nucleus and completed its function. The mutation causes the Notch 3 protein to be in the cell nucleus for a prolonged period of time continuing to affect gene activity.
Lateral meningocele syndrome
Lipomeningomyelocele
Sialocele
Encephalocele
Ramsay Hunt syndrome
Choroid plexus cyst
Choroid plexus tumor
Subdural hygroma