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Article

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.

Genes - 10 Jun 2022

McCoy Megan D, Sarasua Sara M, DeLuca Jane M, Davis Stephanie, Phelan Katy, Rogers Roger Curtis, Boccuto Luigi

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by chromosomal rearrangements affecting the 22q13.3 region or by SHANK3 pathogenic variants. The scientific literature suggests that up to 40% of individuals with PMS have kidney disorders, yet little research has been conducted on the renal system to assess candidate genes attributed to these disorders. Therefore, we first conducted a...

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Identifiers

PMID: 35741804
DOI: 10.3390/genes13061042
PMCID: PMC9223119

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