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Table 3 Patient-level genotype, DAS-II scores, and study discontinuation data from the overall study population

From: Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study

  

Study discontinuation

DAS-II GCA score

DAS-II nonverbal reasoning standard scorea

DAS-II verbal standard scorea

Variant data

ID

Age

(years)

Discontinuation

(Y/N)

Study year (M)

Reason

for

discontinuation

Enrolled in 094

(Y/N)

Baseline

(group)

EoS/

last visit

Baseline

EoS/

last visit

Baseline

EoS/

last visit

Type

Nucleotide

change

Amino acid substitution

Patient A

3.1

Y

1 (M0)

Enrolled in 094 study

Y

66

(≤ 70)

N/A

71

N/A

64

N/A

Missense

c.1402C > T

p.R468W

Patient B

3.4

Y

1 (M0)

Enrolled in 094 study

Y

94

(> 70)

N/A

85

N/A

104

N/A

Large deletion

Deletion of exons 1–8

–

Patient C

10.1

Y

1 (M0)

Withdrew from study

N

79

(> 70)

N/A

84

N/A

86

N/A

Nonsense

c.36G > A

p.W12X

Patient D

7

Y

1 (M0)

Enrolled in 094 study

Y

65

(≤ 70)

N/A

74

N/A

63

N/A

Nonsense

c.1186C > T

p.Q396X

Patient E

4.4

Y

1 (M0)

Enrolled in 094 study

Y

43

(≤ 70)

N/A

78

N/A

59

N/A

Missense

c.686A > G

p.H229R

Patient F

3.4

Y

1 (M3)

Enrolled in 094 study

Y

83

(> 70)

66

92

74

76

86

Missense

c.1472C > T

p.S491F

Patient G

2.4

Y

1 (M3)

Enrolled in 094 study

Y

Missing

83

Missing

83

Missing

87

Missense

c.685C > T

p.H229Y

Patient H

4.1

Y

1 (M3)

Enrolled in 094 study

Y

63

(≤ 70)

75

96

83

85

94

Complete deletion/large rearrangement

–

–

Patient I

12.4

Y

1 (M6)

Noncompliance

N

91

(> 70)

77

92

80

92

89

Intronic

c.1181-1G > C

–

Patient J

3.9

Y

1 (M6)

Enrolled in 094 study

Y

64

(≤ 70)

64

75

87

79

69

Nonsense

c.1093G > T

p.G365X

Patient K

5.2

Y

1 (M6)

Withdrew from study

N

Missing

47

68

63

69

65

Missense

c.998C > T

p.S333L

Patient L

2.2

Y

1 (M6)

Enrolled in 094 study

Y

Missing

78

Missing

86

Missing

72

Missense

c.1403G > C

p.R468P

Patient M

2.3

Y

1 (M12)

Enrolled in 094 study

Y

Missing

104

Missing

107

Missing

100

Frameshift

c.993delT

p.F331fsX8

Patient N

6.5

Y

1 (M9)

Enrolled in 094 study

Y

60

(≤ 70)

67

79

100

85

87

Missense

c.134A > G

p.D45G

Patient O

3.7

Y

1 (M9)

Enrolled in 094 study

Y

68

(≤ 70)

63

88

86

68

57

Splice site

c.1122C > T

p.G374G

Patient P

4.9

Y

1 (M9)

Lost to follow-up

N

59

(≤ 70)

37

70

55

63

39

Missense

c.1025A > C

p.H342P

Patient Q

3.5

Y

1 (M9)

Enrolled in 094 study

Y

Missing

55

Missing

84

Missing

54

Missense

c.1400C > T

p.P467L

Patient R

2.3

Y

1 (M9)

Enrolled in 094 study

Y

Missing

86

Missing

81

Missing

94

Missense

c.283A > G

p.R95G

Patient S

3

Y

1 (M9)

Enrolled in 094 study

Y

82

(> 70)

52

88

71

79

90

Unclassifiableb

c.785delCb

–

Patient T

8.1

Y

1 (M9)

Withdrew from study

N

55

(≤ 70)

71

74

79

45

77

Missense

c.1403G > A

p.R468Q

Patient U

3.3

Y

1 (M12)

Enrolled in 094 study

Y

87

(> 70)

77

84

105

93

92

Missense

c.1403G > A

p.R468Q

Patient V

2.9

Y

1 (M12)

Enrolled in 094 study

Y

95

(> 70)

74

85

71

105

108

Frameshift

c.542insA

p.N181fsX17

Patient W

5.1

Y

1 (M12)

Enrolled in 094 study

Y

56

(≤ 70)

45

77

64

70

57

Missense

c.1504T > G

p.W502G

Patient X

3.3

Y

1 (M12)

Screened for 094 study

N

90

(> 70)

88

90

102

90

93

Missense

c.1504T > G

p.W502G

Patient Y

4

Y

2 (M15)

Enrolled in 094 study

Y

96

(> 70)

104

98

118

114

117

Missense

c.134A > G

p.D45G

Patient Z

3.4

Y

2 (M15)

Enrolled in 094 study

Y

89

(> 70)

80

87

116

92

79

Intronic

c.709-2A > G

–

Patient AA

2.9

Y

2 (M15)

Enrolled in 094 study

Y

92

(> 70)

79

91

89

93

96

Missense

c.1402C > T

p.R468W

Patient AB

7.3

Y

2 (M15)

Lost to follow-up

N

122

(> 70)

128

112

112

101

136

Missense

c.425C > T

p.S142F

Patient AC

2.1

Y

2 (M21)

Enrolled in 094 study

Y

Missing

61

Missing

79

Missing

60

Frameshift

c.1091delC

p.P364fsX26

Patient AD

5.7

Y

2 (M21)

Screened for 094 study

N

55

(≤ 70)

56

69

64

54

55

Missense

c.262C > T

p.R88C

Patient AE

2

Y

2 (M21)

Withdrew from study

Y

Missing

87

Missing

88

Missing

96

Missense

c.998C > T

p.S333L

Patient AF

2.4

Y

Missing

Enrolled in 094 study

Y

Missing

Missing

Missing

Missing

Missing

Missing

Frameshift

c.1381_1384

dupATTG

p.A462fsX3

Patient AG

5.5

N

N/A

N/A

N

88

(> 70)

111

112

140

98

93

Missense

c.1400C > G

p.P467R

Patient AH

4

N

N/A

N/A

N

110

(> 70)

104

121

116

104

100

Missense

c.1568A > G

p.Y523C

Patient AI

4.8

N

N/A

N/A

N

113

(> 70)

102

115

95

106

99

Missense

c.1406C > T

p.P469L

Patient AJ

4.9

N

N/A

N/A

N

59

(≤ 70)

33

73

32

73

45

Missense

c.257C > T

p.P86L

Patient AK

3.7

N

N/A

N/A

N

70

(≤ 70)

34

81

47

85

36

Missense

c.257C > T

p.P86L

Patient AL

8.9

N

N/A

N/A

N

81

(> 70)

87

90

89

80

86

Missense

c.329G > A

p.R110K

Patient AM

6.2

N

N/A

N/A

N

62

(≤ 70)

66

77

85

71

75

Intronic

c.879 + 1G > T

–

Patient AN

6.2

N

N/A

N/A

N

102

(> 70)

108

87

91

99

122

Splice site

c.1122C > T

p.G374G

Patient AO

5.8

N

N/A

N/A

Y

90

(> 70)

88

93

88

96

87

Missense

c.239A > G

p.Q80R

Patient AP

12.8

N

N/A

N/A

N

Missing

92

Missing

94

83

81

Splice site

c.1122C > T

p.G374G

Patient AQ

15.4

N

N/A

N/A

N

98

(> 70)

94

94

103

89

103

Missense

c.281G > A

p.G94D

Patient AR

16.7

N

N/A

N/A

N

79

(> 70)

82

82

90

81

87

Splice site

c.1122C > T

p.G374G

Patient AS

7.9

N

N/A

N/A

N

81

(> 70)

74

85

86

77

65

Missense

c.1387T > C

p.Y463H

Patient AT

4.3

N

N/A

N/A

N

Missing

38

Missing

62

Missing

31

Missense

c.283A > G

p.R95G

Patient AU

6.4

N

N/A

N/A

N

104

(> 70)

105

110

107

71

93

Missense

c.253G > A

p.A85T

Patient AV

3.4

N

N/A

N/A

N

105

(> 70)

118

105

121

104

122

Missense

c.824A > T

p.D275V

Patient AW

4

N

N/A

N/A

N

48

(≤ 70)

37

61

49

69

41

Intronic

c.708 + 1G > A

–

Patient AX

7

N

N/A

N/A

N

86

(> 70)

78

78

78

83

73

Splice site

c.1122C > T

p.G374G

Patient AY

5.4

N

N/A

N/A

N

53

(≤ 70)

40

79

54

50

36

Missense

c.998C > T

p.S333L

Patient AZ

5.4

N

N/A

N/A

N

75

(> 70)

74

103

80

69

43

Intronic

c.1181-1G > A

–

Patient BA

7.9

N

N/A

N/A

N

72

(> 70)

71

96

93

46

38

Missense

c.592G > A

p.D198N

Patient BB

12.1

N

N/A

N/A

N

56

(≤ 70)

52

60

53

47

38

Nonsense

c.1327C > T

p.R443X

Patient BC

9

N

N/A

N/A

N

65

(≤ 70)

66

61

69

73

63

Nonsense

c.1327C > T

p.R443X

  1. aThe DAS-II nonverbal and verbal scores are for the early years or school age battery, as appropriate for the age of the patient in each case
  2. bThe genotype description reported for patient S was inconsistent with reference sequence. The variant recorded by the study site is a deletion of cytosine at position 785, but the reference nucleic acid at that position should be a thymine. As such, the variant for this patient was listed as ‘unclassifiable’
  3. DAS-II, Differential Ability Scales, Second Edition; EoS, end of study; GCA, General Conceptual Ability; ID, anonymized patient identifier; M, month; N/A, not applicable
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172