Table 3.

NOTCH3 Allelic Disorders

DisorderMOIComment
CADASIL ADNOTCH3 pathogenic variants are detected in exons 2-24 in persons w/CADASIL. The majority of sequence alterations are missense variants, characteristically leading to loss or gain of a cysteine residue in 1 of the 34 epidermal growth factor-like repeat domains of NOTCH3.
Infantile myofibromatosis 2 (OMIM 615293)ADA heterozygous NOTCH3 pathogenic variant was predicted to cause infantile myofibromatosis in 1 family w/9 affected persons.

AD = autosomal dominant; CADASIL = cerebral autosomal dominant arteriopathy w/subcortical infarcts & leukoencephalopathy; MOI = mode of inheritance

From: NOTCH3-Related Lateral Meningocele Syndrome

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