Table 1 Clinical characteristics and ICSI outcomes of the DNALI1-mutant patient.

From: DNALI1 deficiency causes male infertility with severe asthenozoospermia in humans and mice by disrupting the assembly of the flagellar inner dynein arms and fibrous sheath

 

Patient

AC050

Gene

DNALI1

cDNA mutationa

c.663_666del

Amino acid alterationb

Glu221fs

Exon

5

Zygosity

Homozygous

Mutation type

Frameshift deletion

Allele frequency

1KGP

NA

ExAC

NA

gnomAD

NA

Semen parameters

Semen volume (ml)

3.2

Sperm concentration (106/ml)

23.5

Progress motility (%)

0

Motility (%)

0

Normal morphological spermatozoa (%)

47

ICSI treatment

No. of ICSI cycles

1

No. of oocytes injected

8

Fertilization rate (%)

8

Cleavage rate (%)

8/8 (100)

8 cells embryo development rate (%)

4/8 (50)

Blastocyst development rate (%)

4/8 (50)

Number of embryos transferred

1

Implantation rate (%)

1/1 (100)

Clinical pregnancy

Y

Live birth

Boy

  1. 1KGP 1000 Genomes Project, ExAC Exome Aggregation Consortium, gnomAD Genome Aggregation Database, NA not available, Y yes.
  2. aDNALI1 GenBank accession No. NM_003462.5.
  3. bFull-length DNALI1 protein has 258 amino acids.
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