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Table 3 Gene variants in 25 IHH patients

From: Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism

Case

Age (yr)

Gene

Variant

Novel

Amino acid

Pathogenicity

PROVEAN

SIFT

Mutation Taster

MAF (%)

Source of variant

M1

14.4

KAL1

c.1891C > T

N

p. Arg631Ter

P

U

U

U

na.

De novo

M2

14.3

KAL1

c.1525delA

Y

p. Ser509fs

P

U

U

U

na.

De novo

M3

14.7

KAL1

c.1267C > T

N

p. Arg423Ter

P

U

U

U

na.

Mother

M4

14.7

KAL1

c.1524delA

Y

p. Ser509fs

P

U

U

U

na.

De novo

  

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

De novo

M5

14

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

Father

  

PROKR2

c.491G > A

N

p. Arg164Gln

LP

−4.02

0.004

1

0.0028

Mother

M6

14

PROKR2

c.337 T > C

N

p. Tyr113His

LP

−4.525

0.0

1

na.

Mother

M7

15.2

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

Mother

M8

14.4

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

De novo

M9

15.4

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

De novo

M10

14

PROKR2

c.533G > C

N

p. Trp178Ser

VUS

−12.34

0.0

1

0.0205

Father

M11

14

PROK2

c.223-4C > A

Y

U

VUS

U

U

U

na.

De novo

M12

14

PROK2

c.306G > C

Y

p. Arg102Ser

VUS

−5.46

0.0

0.999

na.

Mother

M13

15.9

FGFR1

c.761G > A

N

p. Arg254Gln

LP

−4.39

0.006

1

na.

Father

M14

15.4

FGFR1

c.963dupA

Y

p. Glu322fs

P

U

U

U

na.

De novo

M 15

14.8

FGFR1

c.1695_1696insT

Y

p. Lys566Ter

P

U

U

U

na.

De novo

M16

15

FGFR1

c.580G > T

Y

p. Gly194Cys

VUS

−6.59

0.0

1

na.

De novo

M17

14

FGFR1

c.232C > T

N

p. Arg78Cys

P

−4.82

0.0

1

na.

De novo

M18

14.9

FGFR1

c.1886 T > C

Y

p. Val629Ala

LP

−3.436

0.002

1

na.

De novo

M19

14

FGFR1

c.2008G > A

N

p. Glu670Lys

LP

−3.521

0.009

1

na.

De novo

M20

14

FGFR1

c.2147G > T

Y

p. Gly716Val

VUS

−7.549

0.007

1

na.

Mother

M21

14

FGFR1

c.1081 + 1del

Y

U

P

U

U

U

na.

De novo

M22

14

CHD7

c.5405-7G > A

N

U

P

U

U

U

na.

De novo

M23

14

SEMA3A

c.875 T > C

Y

p. Ile292Thr

VUS

−3.32

0.028

1

0.0004

Mother

F24

14.7

FGFR1

c.1974_1977del

Y

p. Asn659fs

P

U

U

U

na.

De novo

F25

17.5

FGFR1

c.75_78del

Y

p. Thr26fs

P

U

U

U

na.

Mother

  1. F female, M male, N negative or no, Y yes, P pathogenic, LP likely pathogenic, VUS uncertain significance, U unknown, na. no record in gnomAD
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BMC Endocrine Disorders

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