Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Alicia Guemez-GamboaAhmet Okay ÇağlayanValentina StanleyAnne GregorMaha S ZakiSahar N SaleemDamir MusaevJennifer McEvoy-VenneriDenice BelandresNaiara AkizuJennifer L SilhavyJana SchrothRasim Ozgur RostiBrett CopelandSteven M LewisRebecca FangMahmoud Y IssaHuseyin PerHakan GumusAyse Kacar BayramSefer KumandasGozde Tugce AkgumusEmine Z Erson-OmayKatsuhito YasunoKaya BilguvarGali HeimerNir PillarNoam ShomronDaphna Weissglas-VolkovYuval PoratYaron EinhornStacey GabrielBruria Ben-ZeevMurat GunelJoseph G GleesonPublished in: Annals of neurology (2018)
DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.