Data_Sheet_1_Novel compound heterozygous CCDC40 mutations in a familial case of primary ciliary dyskinesia.ZIP

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by motile ciliary dysfunction and impaired ultrastructure. Despite numerous studies, the genetic basis for about 30% of PCD cases remains to be elucidated. Here, we present the identification and functional analysis of two novel mutations in the gene encoding coiled-coil domain-containing protein 40 (CCDC40), which are found in a familial case of PCD. These novel CCDC40 mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420.2: p.(Ile681fs), were identified by whole-exome sequencing (WES). Sanger sequencing was then performed to confirm the WES results and determine the CCDC40 gene sequences of the proband’s parents. The c.2042_2046delTCACA mutation disrupts the reading frame of the protein and is therefore predicted to produce a non-functional protein. Using a minigene assay with the pcDNA3.1(+) plasmid, we further investigated the potential pathogenic effects of the c.2236-2delA mutation and found that this mutation leads to formation of a truncated protein via splicing disruption. Thus, in summary, we identified two mutations of the CCDC40 gene that can be considered pathogenic compound heterozygous mutations in a case of familial PCD, thereby expanding the known mutational spectrum of the CCDC40 gene in this disease.</p

Maternal and data characteristics among the three centers.

<p>Maternal and data characteristics among the three centers.</p

ROC curve for predicting the influence factor of STIC quality.

<p>ROC curve for predicting the influence factor of STIC quality.</p

Scoring system of the volume data quality.

<p>Scoring system of the volume data quality.</p

Results of binary logistic regression.

<p>Results of binary logistic regression.</p

Single-factor analysis.

<p>Single-factor analysis.</p

Success rates of reconstructed cardiac views.

<p>Success rates of reconstructed cardiac views.</p

ROC curve for aggregate score criteria and stated obstetric screening plane criteria (used in this study) for judging the STIC quality.

<p>ROC curve for aggregate score criteria and stated obstetric screening plane criteria (used in this study) for judging the STIC quality.</p

Feasibility Study on Prenatal Cardiac Screening Using Four-Dimensional Ultrasound with Spatiotemporal Image Correlation: A Multicenter Study - Fig 1

<p>Multiplanar mode (4CV as the original acquisition plane): (A) 4CV; (B) DA; (C) transverse section of plane A. LV, left ventricle; RV, right ventricle; LA, left atrium; RA, right atrium; DAO, descending aorta; RVOT, right ventricular outflow tract; 4CV, four-chamber view; DA, ductal arch.</p

The primers of Sanger sequencing.

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