Fig. 1: Clinical manifestations in our case. | Human Genome Variation

Fig. 1: Clinical manifestations in our case.

From: Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

Fig. 1

A Brain MRI (T2-weighted image). B Sanger sequencing. The patient’s father and mother carried a heterozygous mutation of c.1397 C > T (p.T466M) in the PRODH gene. C The growth curve of the patient from birth. Filled circles, height measurements; open circles, weight measurements. These circles are superimposed onto the Cross-sectional Growth Chart for Boys (0–18 y) provided by the 2000 National Growth Survey on Preschool Children & School Health Statistics Research. The height of our patient was −2.0 SD of the mean height for his age among Japanese male children. The dotted lines at −2.5 SD and −3.0 SD of height indicate the criteria for starting growth hormone (GH) treatment for GH insufficiency and achondroplasia. SD: standard deviation.

Back to article page