PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population

Molecular Medicine Reports
Zehua WuJianjun Chen

Abstract

The present study aimed to identify the disease‑causing gene of a four‑generation Chinese family affected with congenital posterior subcapsular cataracts (CPSC), to additionally investigate the frequency of paired like homeodomain 3 (PITX3) mutations in Chinese patients with autosomal dominant congenital cataract (ADCC) and to analyze the pathogenesis of the mutations identified in the present study. Whole exome sequencing (WES) was utilized to identify the genetic cause of CPSC in the four‑generation family. Sanger sequencing was performed to verify the WES results and to screen for mutations of the PITX3 gene in probands of an additional 194 Chinese ADCC families. Co‑segregation analysis was performed in the family members with available DNA. Subcellular localization analyses and transactivation assays were performed for the PITX3 mutations identified. From the WES data, the c.608delC (p.A203GfsX106) mutation of PITX3 was identified in the four‑generation family with CPSC. A second PITX3 mutation c.640_656del (p.A214RfsX42) was detected in two of the additional 194 ADCC families and one of these two families exhibited incomplete penetrance. Functional studies indicated that these 2 PITX3 mutant proteins retained a nuclear loc...Continue Reading

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Citations

Apr 13, 2021·Cellular and Molecular Life Sciences : CMLS·Thai Q Tran, Chrissa Kioussi

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Methods Mentioned

BETA
exome sequencing
PCR
transfection

Software Mentioned

Genome Analysis Toolkit
Integrative Genomics Viewer
GraphPad
CoNIFER
GATK
GraphPad Prism

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