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*
a) Family pedigree showing autosomal recessive mode of inheritance (b) Sangers sequencing chromatograms showing segregation of variant c.899C>G in the family in DNAAF2 gene.
Sperm morphological analysis (a) Normal control sperm morphology (b) Patient sperm showing bent, absent, short and irregular sperm flagella.
Clinical features of patient. (a) Radiographic image of patient with bronchiectasis showing right left-sided lumbar scoliosis (b and c) The chest high-resolution computed tomography (HRCT) scan of patient showing bronchiectasis and the situs inversus.
Transmission election microscopic examination revealed that ODAs were not present in the sperm flagella of the patients.
(a) 3D model of wild-type DNAAF2 protein (b) 3D model of wild-type DNAAF2 protein (c) 3D model of superimpose structure of wild-type and mutant DNAAF2 proteins.
