Genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins in Japanese infants.

BACKGROUND

The genetic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) among infants in Japan have not been extensively evaluated.

METHODS

This study enrolled sixteen infants with pathologically confirmed ACDMPV. DNA was extracted from the peripheral blood cells of the infants for genetic analysis. The samples from tree infants were not viable for analysis, so only 13 were analyzed. Sanger sequencing or next-generation sequencing of the FOXF1 coding exon was performed on the samples. When causative variations were not identified, the multiplex ligation-dependent probe amplification (MLPA) method was used to identify copy-number variations (CNVs) in the exons and the upstream region of FOXF1.

RESULTS

The causative lesions included three missense, one nonsense, and two frameshift variations from six (46 %) participants. CNVs were detected in the DNA samples of five (38 %) participants. No relevant genetic lesions were identified in the remaining two (15 %) cases. The father and two siblings of one affected infant exhibited the same CNV in the upstream region of FOXF1.

CONCLUSION

We have previously reported cases of ACDMPV patients diagnosed by molecular analysis without pathological confirmation in Japan. This article is the first to report the genetic features associated with pathologically confirmed ACDMPV among infants in Japan.