Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non ‐coding sequence variant of PPP1R12A

ConclusionsTo our knowledge, this is the first clinical study on a rare variant ofPPP1R12A in the Chinese population. The c.2666+3A>G may lead to external genitalia malformation, such as congenital micropenis in male neonates. The results of this study further verified the correlation between GUBS andPPP1R12A haploinsufficiency and revealed the important role of a non-coding sequence variant in the pathogenesis of the disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research