Table 1 Semen and variant analysis in the MMAF patients from consanguineous families

From: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella

   

Patient A

Patient B

Semen parameters

Semen volume (ml)

5

4

Semen concentration (106/ml)

35

14.4

Progressive motility (%)

0

2.7

Motility (%)

 

0

5.4

Sperm morphology

Normal flagella (%)

1

1

Aberrant flagella (%)

 

99

99

 

cDNA mutationa

c.192 G > A

c.3037 C > T

Protein alteration

p. L64a

p.R1013a

Variant type

nonsense

nonsense

Allele frequency

Variant

ExAC Browser

Total

0

0.00002471

East Asians

0

0

GnomAD

Total

0

0.00001989

East Asians

0

0

1000 Genomes Project

Total

0

0

East Asians

0

0

In-house Chinese-control

0

0

  1. Aberrant flagella mainly represent morphological abnormalities of the flagellum including coiled, bent, irregular, short or/and absent flagella
  2. aThe accession number for QRICH2 is GenBank: NM_032134.2
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