PMC5989644_01
PMC5989644_02
PMC5989644_03
Growth curve of patient 1 showed the effect of ibuprofen in improving weight and height (A,B), while Growth curve of patient 2 showed persistent growth retardation (C,D).
fped-06-00153-g0001.jpg
PMC5989644_04_fped-06-00153-g0001.jpg
F1
At the age of six, the boy came back to us, still suffering from a severe growth retardation [weight 11.2 kg (<=3SD), height 89.4 cm (<=3SD)] (Figures 1C,D), hypokalemia, hypochloremia (K+ 2.38 mmol/L, Cl- 92.6 mmol/L) and metabolic alkalosis (pH 7.50,  32.3 mmol/L, pCO2 5.9 Kpa).
Mutation analysis of patient 1 showed a point mutation of CLCNKB (A) and a loss of exons 1-18 (B).
fped-06-00153-g0002.jpg
PMC5989644_03_fped-06-00153-g0002.jpg
F2
One is a homozygous transition (A-G) at the -2 position of the splicing acceptor site of intron 12 (NM_000085.4:C.1228-2A>G) from her mother (Figure 2A), which may resulted in the abnormal splice of exon 12. Another one is a heterozygous loss of exons 1-18(NM_000085.4: Ex1_18 del) from her father (Figure 2B).
PMC5989644_04
Growth curve of patient 1 showed the effect of ibuprofen in improving weight and height (A,B), while Growth curve of patient 2 showed persistent growth retardation (C,D).
fped-06-00153-g0001.jpg
PMC5989644_04_fped-06-00153-g0001.jpg
F1
At the age of six, the boy came back to us, still suffering from a severe growth retardation [weight 11.2 kg (<=3SD), height 89.4 cm (<=3SD)] (Figures 1C,D), hypokalemia, hypochloremia (K+ 2.38 mmol/L, Cl- 92.6 mmol/L) and metabolic alkalosis (pH 7.50,  32.3 mmol/L, pCO2 5.9 Kpa).
CLCNKB q-PCR analysis of patient 2 showed a homozygous loss of exons 1-18 in CLCNKB
(A) while both parents appeared heterozygous (B). Homozygous loss of CLCNKB is also shown by absence of bands in gel-electrophoresis of CLCNKB specific PCR products specific compared to a control sample (C). P, patient; C, control.
fped-06-00153-g0003.jpg
PMC5989644_04_fped-06-00153-g0003.jpg
F3
Unfortunately for the patient, since he descended from a consanguineous marriage, he inherited a large homozygous loss of exons 1-18 (NM_000085.4: Ex1_18 del) from his parents (Figures 3A,B), which was showed better by PCR electrophoresis of CLCNKB (Figure 3C).