case_images: PMC9935931_01
case_images: (A) Length/height-for-age SD curves (in cm) for a patient before rhGH therapy: according to the Chinese children's growth standards, the proband's born weight (BW) is 2,680 g (-1.59SD, P5.5), and birth length is 49 cm (0.78SD, P21.7). At the age of 14 months, the patient presented with a short stature and a slightly sloping shank, his height was 63.80 cm (-5.3SD, <=P0.1), and his weight was 6.00 kg (-3.8SD, <=P0.1). At the age of 36 months, his height was 78.2 cm (-4.84SD, <=P0.1), weight was 9 kg (-3.33SD, <=P0.1), and BMI was 14.72 (-0.62SD, P26.7). (B) Height-for-age SD curves (in cm) for the patient under rhGH therapy. The patient received rhGH therapy at a dosage of 0.15-0.2 IU/kg/d ih at the age of 36 months (the arrow points to). At the age of 36 months, his height was 78.2 cm (-4.84SD, <=P0.1), weight was 9 kg (-3.33SD, <=P0.1), and BMI was 14.72 (-0.62SD, P26.7). After 3 years of rhGH therapy, the patient showed rapid growth, following which his height was 99 cm (-3.96SD, <=P0.1) and weight was 12.80 kg (-2.84SD, <=P0.1) at the age of 65 months. rhGH, recombinant human growth hormone.
case_images: fped-11-1068718-g001.jpg
case_images: PMC9935931_01_fped-11-1068718-g001.jpg
case_images: F1
case_images: The growth standards of Chinese children were developed on the basis of a study of their physical development in nine provinces and cities in the year 2005 and published in the 7th issue of the Chinese Journal of Pediatrics in 2009, and since then, our physical measurements have been assessed using these standards (Figure 1A). After 3 years of rhGH therapy, the patient showed rapid growth, following which his height was 99 cm (-3.96SD, <=P0.1) and weight 12.80 kg (-2.84SD, <=P0.1) (Figure 1B), and his upper segment was 54 cm.
case_images: Clinical characteristics of a patient with the variant in MBTPS1. (A) The patient shows distinctive facies with macrotia, retromicrognathia, sternal malformation, protruding abdomen, and kyphoscoliosis. (B) The growth hormone stimulation test shows that under the stimulation of arginine and levodopa, the growth hormone level peaks at 60 min: 6.7 ng/ml (peak >10 indicates normal levels, 5-10 indicates part deficiency, and <5 indicates deficiency). (C) Radiographs at the age of 6 years. A notable straightened physiological curvature of the cervical, thoracic, and lumbar spine, irregular morphology of cones, reduced bone density of the cones, C2-C3 and C3-C4 intervertebral disc space narrowing, and bilateral shallow acetabulum. MBTPS1, membrane-bound transcription factor peptidase, site 1.
case_images: fped-11-1068718-g002.jpg
case_images: PMC9935931_01_fped-11-1068718-g002.jpg
case_images: F2
case_images: A growth hormone stimulation test showed that under the stimulation of arginine and levodopa, the growth hormone level peaked at 60 min: 6.7 ng/ml (Figure 2B).
case_images: WES reveals heterozygous MBTPS1 p.Asp530Gly (exon12; c.1589A > G) and p.Glu55Lys (exon2; c.163T > C) variants in the patient. (A) The heterozygous variant of p.Asp530Gly (exon12; c.1589A > G) was found in his father, whereas his mother had the wild type. (B) The other heterozygous variant of p.Glu55Lys (exon2; c.163T > C) was found in his mother, whereas his father had the wild type. WES, whole exome sequencing; MBTPS1, membrane-bound transcription factor peptidase, site 1.
case_images: fped-11-1068718-g003.jpg
case_images: PMC9935931_01_fped-11-1068718-g003.jpg
case_images: F3
case_images: The heterozygous variant of c.1589(exon12)A > G was found in his father, whereas his mother had the wild type (Figure 3A). The other heterozygous variant c.163(exon2)G > A was found in his mother, whereas his father had the wild type (Figure 3B).