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. 2013 Sep 19;8(9):e74544. doi: 10.1371/journal.pone.0074544

Table 4. Molecular and clinical information of 60 new NICCD patients in China.

Case Patient Gender Mutations Major presentations Clinical outcomes
57 C0049 Male 851del4/851del4 NICCD Dyslipidemia
58 C0050 Female 851del4/851del4 NICCD FTTDCD
59 C0054 Male R467X/IVS4ins6kb NICCD Dyslipidemia
60 C0056 Male 851del4/851del4 NICCD, ASD+VSD α-Thalassemia
61 C0057 Male 851del4/1638-1660dup NICCD Normal
62 C0060 Male Q259X/c.72A>T NICCD Dyslipidemia
63 C0063 Male 851del4/851del4 NICCD FTTDCD
64 C0068 Male 851del4/851del4 NICCD Dyslipidemia
65 C0069 Male 851del4/IVS6+5G>A NICCD Lost contact
66 C0070 Female 851del4/851del4 NICCD Lost contact
67 C0071 Female 851del4/851del4 NICCD Dyslipidemia
68 C0073 Female 851del4/851del4 NICCD Lost contact
69 C0075 Female 851del4/851del4 NICCD Lost contact
70 C0076 Female 851del4/1638-1660dup NICCD FTTDCD
71 C0078 Male 851del4/851del4 NICCD Normal
72 C0079 Male IVS16ins3kb/c.1048G>A NICCD Lost contact
73 C0082 Male 1638-1660dup/1638-1660dup NICCD Lost contact
74 C0086 Male 851del4/851del4 NICCD Lost contact
75 C0087 Male 851del4/1638-1660dup NICCD Dyslipidemia
76 C0095 Male 851del4/IVS6+5G>A NICCD Normal
77 C0097 Male 851del4/851del4 NICCD Hepatomegaly
78 C0098 Male 1638-1660dup/c.1063C>G NICCD Lost contact
79 C0099 Memale 851del4/IVS6+5G>A NICCD Normal
80 C0108 Female 1638-1660dup/c.1364G>T NICCD Normal
81 C0109 Male 851del4/851del4 NICCD Normal
82 C0110 Female IVS6+5G>A/R319X NICCD Normal
83 C0116 Male IVS6+5G>A/IVS16ins3kb NICCD Normal
84 C0123 Female 851del4/IVS16ins3kb NICCD, liver cirrhosis FTTDCD, ascites, umbilical hernia, Hematochezia
85 C0124 Male IVS6+5G>A/? NICCD, eczema Normal
86 C0125 Male Q159X/R467X NICCD Dyslipidemia
87 C0129 Male 851del4/IVS6+5G>A NICCD, liver cirrhosis FTTDCD, Died of liver cirrhosis at his age of 2 years and 5 months
88 C0130 Male 851del4/851del4 NICCD, Iron-deficient anemia Iron-deficient anemia
89 C0134 Male 851del4/IVS6+5G>A NICCD, cerebral palsy FTT, improved cerebral palsy
90 C0136 Female 851del4/R467X NICCD Normal
91 C0139 Female 1092-1095delT/c.754G>A NICCD FTT
92 C0139B Male 1092-1095delT/c.754G>A NICCD Normal
93 C0140 Female IVS11+1G>A/IVS16ins3kb NICCD Improved cholestasis
94 C0142 Female 851del4/851del4 NICCD Improved cholestasis
95 C0143 Male 851del4/851del4 NICCD Improved cholestasis
96 C0144 Female 851del4/851del4 NICCD Normal
97 C0146 Male IVS16ins3kb/IVS16ins3kb NICCD FTT
98 C0147 Male 1638ins23/IVS6+5G>A NICCD Improved cholestasis
99 C0068S Female 851del4/851del4 NICCD Lost contact
100 C0148 Female 851del4/851del4 NICCD Improved cholestasis
101 C0149 Female 851del4/851del4 NICCD Improved cholestasis
102 C0150 Male IVS6+5G>A/R319X NICCD Improved cholestasis
103 C0151 Female 851del4/? NICCD Improved cholestasis
104 C0154 Female 851del4/851del4 NICCD Improved cholestasis
105 C0156 Female 851del4/IVS16ins3kb NICCD Improved cholestasis
106 C0157 Male 1638ins23/c.265delG NICCD Improved cholestasis, hydrocele
107 C0158 Female 851del4/IVS16ins3kb NICCD Improved cholestasis, congenital muscular torticollis, inguinal hernia
108 C0159 Male 851del4/851del4 NICCD Improved cholestasis
109 C0160 Female 851del4/IVS16ins3kb NICCD Improved cholestasis
110 C0161 Female 851del4/1092-1095delT NICCD Improved cholestasis
111 C0162 Female 851del4/851del4 NICCD Improved cholestasis
112 C0163 Female 851del4/851del4 NICCD Improved cholestasis
113 C0166 Male 1638ins23/1638ins23 NICCD Improved cholestasis
114 C0168 Male 851del4/c.1215G>T NICCD Improved cholestasis
115 C0169 Female 851del4/? NICCD Improved cholestasis
116 C0170 Female 851del4/c.1775A>C NICCD Improved cholestasis