Related Experiment Video
Updated: Jan 20, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Whole exome sequencing identifies a rare variant in DAAM2 as a potential candidate in idiopathic pulmonary
Sheng-Wen Sun1, Mei Zhou1, Long Chen1
1Department of Respiratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Background:
Diffuse pulmonary ossification (DPO) is a rare disease characterized by bone tissue formation in the lung. DPO can be classified into idiopathic pulmonary ossification (IPO) and secondary pulmonary ossification. Cases with no identified etiology are classified as IPO. Variants of dishevelled associated activator of morphogenesis 2 (DAAM2) have been reported to be involved in the bone-resorption of osteoclasts.
Methods:
Whole exome sequencing (WES) was used on samples from a patient with IPO and his healthy parents. The effects of all variants were determined using functional predictors (PolyPhen-2, SIFT, FATHMM and MutationTaster); variants existing only in the patient were further screened compared with his healthy parents.
Results:
Forty deleterious variants, including 25 single nucleotide variants (SNVs) and 15 insertions and deletions (indels), were identified by WES. Finally, DAAM2 (c.G2960T:p.R987L) was screened by pathway analysis.
Conclusions:
We identified a novel variant of DAAM2 (c.G2960T:p.R987L) that might participate in the disease process of IPO.
Related Concept Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
07:51Refined Murine Model of Idiopathic Pulmonary Fibrosis
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
07:50Chip-Based Digital PCR to Detect Rare Transcript Variants Using a Nanofluidic Chip
10:41Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers