Table 1 Phenotypes seen in carriers of rare variants in GPR10

From: A rare human variant that disrupts GPR10 signalling causes weight gain in mice

Variant

Age (years)

Weight (kg)

Height (cm) [SDS]

BMI (kg/m2) [SDS]

Temp (o C)

Heart rate (bpm)

BP (mmHg)

Glucose (mmol/l)

Insulin (pmol/l)

Neurobehavioural conditions

A121D*

13.7

107.0

167.5 [0.9]

38.1 [3.6]

N/A

N/A

N/A

N/A

N/A

 

V162L*

14.9

78.9

153.4 [−1.8]

33.5 [3.1]

N/A

N/A

N/A

4.6

100

 

P193S*

18.4

109.0

169.9 [1.0]

37.7 [3.3]

36.4

54

111/56

4.2

116

Night terrors/sleep walks, anxiety, depression, self-harm, impaired memory

P193S

52.9

88.7

180.7

27.2

36.2

71

127/74

4.6

23

Anxiety, depression, impaired memory, impaired pain sensation

H206N*

4.7

55.2

121.0 [3.0]

37.7 [6.5]

N/A

N/A

85/55

4.8

N/A

 

R220L*

15.7

129.2

155.6 [−1.2]

53.4 [4.4]

36.4

85

103/55

14.2#

69

Aggression, low mood

R220L

54.2

91.8

173.7

30.4

36.0

66

107/61

8.4#

50

Anxiety, low mood, emotional lability, impaired memory

R220L

22.5

80.0

160.2

31.2

36.1

75

99/55

4.7

  

R222S*

24.7

91.4

166.7

32.9

36.8

45

124/67

4.7#

38

Anxiety, depression, autism-like

R222S*

16.2

119.6

161.9 [−0.2]

45.6 [4.0]

N/A

N/A

N/A

4.1

293

 

L242F*

10.1

78.5

144.1 [0.8]

37.8 [3.9]

N/A

N/A

N/A

4.1

N/A

 

A266D*

26.0

116.4

161.1

44.9

36.9

58

113/64

4.5

99

Impaired memory

A266D

8.6

28.0

124.5 [−1.1]

18.1 [0.9]

36.7

73

100/59

4.2

45

Hyperactive, impaired memory, impaired pain sensation

A266D*

8.7

68.0

132.3 [0.2]

38.9 [4.3]

37.0

81

134/78

4.3

103

Aggression, fearless, emotional lability

A266D

9.8

64.4

144.6 [1.2]

30.8 [3.3]

36.6

79

125/69

4.3

120

 

A266D*

11.4

102.3

145.3 [−0.2]

48.5 [4.3]

N/A

N/A

N/A

4.7

225

 

D340N*

12.4

95.7

161.2 [1.3]

36.8 [3.5]

N/A

N/A

N/A

5.1

193

 

L350S*

17.7

105.8

170.3 [1.1]

36.5 [3.2]

36.8

72

119/57

4

133

Impaired memory

L350S

48.4

71.0

170.7

24.4

36.5

51

130/68

3.6

7

 
  1. Data for individuals with severe obesity with GPR10 variants where this was available. BMI Body Mass Index; age and gender-adjusted height and BMI Standard Deviation Scores (SDS) included for children up to age 18 years; fasting plasma insulin (0–60 pmol/l); * denotes proband, #denotes type 2 diabetes and/or treated with metformin, oC temperature (temp) in degrees Celsius, heart rate in beats per minute (bpm) and blood pressure (BP) in millimetres of mercury (mmHg) were measured in the rested fasted state, N/A indicates data not available.
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