PMC4381850_01
The characteristic clinical features of the family with infantile cystinosis. (a) The family investigated in this study. (b) The Corneal crystals on Slit Lamp Examination (left: the proband; right: the control). (c) The radiological signs of renal rickets in the proband.
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The patient II:2 (Figure 1(a)) was the younger brother of the propositus II:1 and was 3 years and 4 months old. We performed exome sequencing of one patient (II:1, Figure 1(a)) in the Chinese family with the symptoms of renal Fanconi syndrome.
Two splice-site deletions of CTNS identified in this study. (a) IVS6+1, del G. In genome: chr17, del3558396G. (b) IVS8-1, del GT. In genome: chr17 del3559780-81Gt (note: this mutation strikes twice, firstly, it leads to IVS8-1, del G; secondly, it leads to the c.462delT).
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