Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome

Table 1

Clinical features of families with BBS.

Family

ID

Gene

DNA change

G

Age

Eye

UCVA

RCD

Other

P

GA

RA

Obesity

BP

HR

SD

DA

BS

AP

AH

HD

(yrs.)

NB

OD

OS

H (cm)

W (Kg)

BMI

(mm Hg)

A

II : 4

BBS2

c.[=]; [=]

M

67

N

6/6

6/6

N

N

N

N

N

NA

NA

NA

NA

NA

N

N

N

N

N

N

A

II : 5

BBS2

c.[=]; [534 + 1G > T]

F

60

N

NA

NA

N

N

N

N

N

162

61.9

23.6

123/69

92

N

N

N

N

N

N

A

II : 3

BBS2

c.[=]; [=]

F

62

N

6/6

6/7.5

N

N

N

N

N

166

85.2

30.9

139/83

73

N

N

N

N

N

N

A

III : 2

BBS2

c.[235T > G]; [=]

M

57

N

6/4.8

6/4.8

N

N

N

N

N

170

70.0

24.2

129/84

72

N

N

N

N

N

N

A

III : 4

BBS2

c.[235T > G]; [=]

M

43

N

6/4.8

6/4.8

N

N

N

N

N

170

76.4

26.4

124/78

93

N

N

N

N

N

N

A

III : 6†

BBS2

c.[=]; [=]

F

42

N

6/60

6/60

N

HM

N

N

N

162

64.5

24.6

106/70

71

N

N

N

N

N

N

A

III : 5‡

BBS2

c.[=]; [534 + 1G > T]

F

39

N

6/60

6/60

N

HM

N

N

N

158

69.7

27.9

120/81

81

N

N

N

N

N

N

A

III : 3

BBS2

c.[=]; [=]

F

51

N

6/4.8

6/4.8

N

N

N

N

N

156

40.6

16.7

114/71

95

N

N

N

N

N

N

A

IV : 1

BBS2

c.[235T > G]; [534 + 1G > T]

F

20

Y

NLP

NLP

Y

Nys

Y

Y

N

160

71.7

28.0

132/90

95

N

N

Y

Y

Y

N

A

IV : 2

BBS2

c.[235T > G]; [534 + 1G > T]

F

18

Y

NLP

NLP

Y

Nys

Y

Y

N

157

103.4

41.9

135/95

119

N

N

Y

Y

NA

N

A

IV : 3

BBS2

c.[235T > G]; [534 + 1G > T]

F

16

Y

FC/1.5m

FC/2m

Y

Nys

Y

Y

N

167

84.1

30.2

184/114

94

N

N

Y

Y

Y

Y

A

IV : 5

BBS2

c.[=]; [534 + 1G > T]

M

11

N

6/4.8

6/6

N

N

N

N

N

144

34.1

16.4

103/73

91

N

N

N

N

N

N

A

IV : 6

BBS2

c.[=]; [534 + 1G > T]

F

9

N

6/3.8

6/6

N

N

N

N

N

129

26.4

15.9

110/68

86

N

N

N

N

N

N

A

IV : 7

BBS2

c.[235T > G]; [=]

F

7

N

6/4.8

6/4.8

N

N

N

N

N

113

20.4

16.0

NA

NA

N

N

N

N

N

N

A

IV : 8

BBS2

c.[=]; [534 + 1G > T]

F

5

N

6/7.5

6/9.5

N

N

N

N

N

108

18.4

15.8

NA

NA

N

Y

N

N

N

N

A

IV : 9

BBS2

c.[=]; [=]

F

3

N

NA

NA

N

NA

N

N

N

90

13.4

16.5

NA

NA

N

N

N

N

N

N

A

IV : 10

BBS2

c.[235T > G]; [534 + 1G > T]

M

2

Y

NA

NA

Y

Nys

Y

Y

N

82

17.8

26.5

NA

NA

Y

N

Y

NA

NA

NA

A

IV : 11

BBS2

c.[235T > G]; [=]

M

25

N

6/4.8

6/6

N

N

N

N

N

173

66.3

22.2

122/82

65

N

N

N

N

N

N

A

IV : 12

BBS2

c.[235T > G]; [=]

F

23

N

6/6

6/6

N

N

N

N

N

157

40.2

16.3

107/75

89

N

N

N

N

N

N

B

IV : 2

MKKS

c.[748G > A]; [748G > A]

F

19

Y

FC/5cm

HM/20cm

Y

Nys

Y

N

N

155

57.5

23.9

111/63

80

N

N

N

N

N

N

G, gender; NB, night blindness; UCVA, uncorrected visual acuity; BP, blood pressure; HR, heart rate; BMI, body mass index; Y, yes; N, No; NA, not available; RCD, rod-cone dystrophy; † and ‡: the III:6 and III:5 are with high myopia, the visual acuity was not corrected by spectacles; M, male; F, female; No, normal; Age, age at examination; OD, right eye; OS, left eye; HM, high myopia; NLP, no light perception; Nys, nystagmus; P, polydactyly; GA, genital anomalies; RA, renal anomalies; H, height; W, weight; SD, speech delay; DM, diabetes mellitus; DA, dental anomalies; BS, brachydactyly/ syndactyly; AP, ataxia/poor coordination; AH, anosmia/hyposmia; HD; hearing defect. Yrs., years old.