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Article

PARD3 gene variation as candidate cause of nonsyndromic cleft palate only.

Journal of cellular and molecular medicine - 1 Aug 2022

Cui Renjie, Chen Dingli, Li Na, Cai Ming, Wan Teng, Zhang Xueqiang, Zhang Meiqin, Du Sichen, Ou Huayuan, Jiao Jianjun, Jiang Nan, Zhao Shuangxia, Song Huaidong, Song Xuedong, Ma Duan, Zhang Jin, Li Shouxia

Abstract excerpt

Nonsyndromic cleft palate only (NSCP) is a common congenital malformation worldwide. In this study, we report a three-generation pedigree with NSCP following the autosomal-dominant pattern. Whole-exome sequencing and Sanger sequencing revealed that only the frameshift variant c.1012dupG [p. E338Gfs*26] in PARD3 cosegregated with the disease. In zebrafish embryos, ethmoid plate patterning defects were observed...

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Share to Chromatography, Liquid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 35789100
DOI: 10.1111/jcmm.17452
PMCID: PMC9344820

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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