TY  - EJOU
AU  - Qi, Muyu 
AU  - Lan, Xiaoping 
AU  - Li, Jia 
AU  - Ge, Junwen 
AU  - Shen, Li 
AU  - Zhang, Rufang 

TI  - Whole Exome Sequencing Identifies A Novel Pathogenic <i>Bmpr2</i> Variant in Pulmonary Atresia
T2  - Structural and Congenital Heart Disease

PY  - 2021
VL  - 16
IS  - 5
SN  - 3071-1738

AB  - <b>Objective: </b>Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery. Therefore, defining a disease-causing gene
mutation in a pulmonary atresia family is a possible method of genetic counseling, future prenatal diagnosis,
and therapeutic approaches for pulmonary atresia. <b>Methods:</b> Blood samples were collected from six PA family
members, and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. Gene detection was performed using a second-generation sequencing gene panel. <b>Results: </b>Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the <i>BMPR2</i> gene of the proband’s
genomic DNA. The pathogenic gene was c.2804C>T (p. A935V). The mutation was also detected in the genomic
DNA of the proband’s elder brother (III-1), but not in other family members. <b>Conclusion:</b> To the best of our
knowledge, this is the first study to report the BMPR2 variant responsible for pulmonary atresia. The frequency
of the c.2804C>T (p. A935V) mutation detected in this family is extremely low in the normal population (1/
246048). The mutation was highly conserved among different species. Sorting intolerant from tolerant (SIFT) predicts it to be a harmful mutation.
KW  - Pulmonary atresia; gene mutation; BMPR2 gene

DO  - 10.32604/CHD.2021.015887