Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation.

ABSTRACT:

Background

Congenital pulmonary airway malformation (CPAM) is a rare lung abnormality characterized by the formation of cystic or solid masses in lung tissues. To date, the genetic etiology of CPAM has not been well described. The objective of this study is to explore the potential genetic etiology of CPAM through trio-based whole exome sequencing (WES).

Methods

We performed WES on 13 fetuses diagnosed with CPAM and their parents. The filtered variants were further analyzed using bioinformatic prediction tools and enrichment analyses.

Results

A total of 23 rare variants were identified in 11 fetuses with CPAM, including 3 homozygous mutations and 19 heterozygous mutations. EYA1, FAP, THAP4 and ALDH1B1, all with extremely low population freq

SUBMITTER: Yu Q 

PROVIDER: S-EPMC12433060 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature