PMC9249018_01
The growth curve and bone ages. (A) The growth curve of Chinese boys. (B,C) Plain X-rays of the left hand and wrist.
fped-10-921323-g001.jpg
PMC9249018_02_fped-10-921323-g001.jpg
F1
On Tanner-Whitehouse (TW3) bone age assessment, his left-hand development score was 260, equaling the bone age of a 5.5-year-old male (Figure 1B), and was thus about 4 years behind that appropriate for his chronological age. When on recombination human growth hormone (rhGH) therapy with 0.2 U/kg d and corn starch therapy (1.75 g/kg, 4 times a day), the patient showed a dramatic turnaround in growth (Figure 1A). After 14 months, his height increased 13 cm, a rate of about 2.6 cm every 3 months, and his bone age was 7 years (Figure 1C) at the age of 12 years.
PMC9249018_02
The growth curve and bone ages. (A) The growth curve of Chinese boys. (B,C) Plain X-rays of the left hand and wrist.
fped-10-921323-g001.jpg
PMC9249018_02_fped-10-921323-g001.jpg
F1
On Tanner-Whitehouse (TW3) bone age assessment, his left-hand development score was 260, equaling the bone age of a 5.5-year-old male (Figure 1B), and was thus about 4 years behind that appropriate for his chronological age. When on recombination human growth hormone (rhGH) therapy with 0.2 U/kg d and corn starch therapy (1.75 g/kg, 4 times a day), the patient showed a dramatic turnaround in growth (Figure 1A). After 14 months, his height increased 13 cm, a rate of about 2.6 cm every 3 months, and his bone age was 7 years (Figure 1C) at the age of 12 years.
Mutational analysis in the patient pedigree. (A) The genotypes of G6PC gene for family members. Roman numerals indicate generations and Arabic numbers indicate individuals. Squares, males; circles, females. Affected individuals are denoted by solid symbols and unaffected individuals are denoted by open symbols. The index patient is indicated by an arrow. The two mutations were inherited from father and mother, respectively. (B) Validation for two compound heterozygous points mutations (c.G248A and c.G648T) at the exon 2 and 5 by Sanger Sequencing. The red arrow showed proband.
fped-10-921323-g002.jpg
PMC9249018_02_fped-10-921323-g002.jpg
F2
First-generation sequencing was performed to verify the mutations in the patient and his family, and the sequences were compared to the Human Gene Mutation Database1 (Figure 2).