Identification of Novel Homozygous Varaint c.899T>G, p.(Leu300Arg) in DNAAF2 Gene Causing Infertility in Chinese Patient
Identification of Novel Homozygous Varaint c.899T>G, p.(Leu300Arg) in DNAAF2 Gene Causing Infertility in Chinese Patient
Xiao Li, Wen Liu, CaiYi Chen and Shaoming Lu*
ABSTRACT
The main aim of the current study was to investigate the Chinese patient having Primary ciliary dyskinesia (PCD). In the current genetic study, a Chinese patient was enrolled who was clinically diagnosed with PCD, and his family members were inquired for pedigree analysis. Different clinical and radiological tests were also performed. While genetic analysis, including Whole Exome (WE) and Sanger Sequencing for variant identification, was done. In silico functional analysis and Transmission electron microscopy (TEM) analysis were also performed. A 39 year old patient exhibited scoliosis and infertility. Genetic analysis of the patient identified a novel homozygous missense variant, NM_018139.3, c.899T>G, p.(Leu300Arg) in the DNAAF2 gene. Later, TEM analysis found that semen flagella showed defects in the outer dynamic arm (ODAs) and inner dynamic arms (IDAs). Sperm morphological analysis also showed abnormal, bent, coiled, and short-size flagella. His sperm motility was zero (0%). However, his hormonal profile was in reference range. Moreover, in silico analysis also confirmed the pathogenicity of the variant.The similarity index of superimpose 3D structure of wild-type and mutant DNAAF2 protein was just 14.81%. A current genetic study identified a homozygous variant of DNAAF2, which results in infertility in a Chinese male patient. This study will also assist in genetic counseling of Chinese families at risk of PCD.
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