Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

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Abstract CELSR3 codes for a planar cell polarity protein.We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3.Affected individuals presented with an overlapping phenotypic spectrum comprising central A supervised scheme for aspect extraction in sentiment analysis using the hybrid feature set of word dependency relations and lemmas nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression.CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue Gas Transport in Shale Nanopores with Miscible Zone experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.