case_images: PMC6199316_01
case_images: Height and body weight growth chart for the patient
case_images: 41439_2018_29_Fig1_HTML.jpg
case_images: PMC6199316_01_41439_2018_29_Fig1_HTML.jpg
case_images: Fig1
case_images: GH therapy (Fig. 1). GH was started at 0.23 mg/kg/week; currently, at 7 years of age, the patient receives GH at a dose of 0.45 mg/kg/week.
case_images: a DNA sequence chromatograms showing the heterozygous mutations c.203G>A (pTrp68*) in the father and c.4355G>A (p.Gly1452Asp) in the mother. Both mutations are detected in the patient. b Multiple sequence alignment of CUL7 amino-acid sequences from different species performed using Clustal Omega (PMID: 25501942). The RefSeq (https://www.ncbi.nlm.nih.gov/refseq/) protein identification of CUL7 for each species is shown.
case_images: 41439_2018_29_Fig2_HTML.jpg
case_images: PMC6199316_01_41439_2018_29_Fig2_HTML.jpg
case_images: Fig2
case_images: We identified the compound heterozygous mutations NM_014780.4 (CUL7_v001): c.203G>A [p.Trp68*] and NM_014780.4 (CUL7_v001): c.4355G>A [p.Gly1452Asp], which were carried by both parents (Fig. 2a). Multiple alignment of CUL7 amino-acid sequences using Clustal Omega showed that glycine at position 1452 is highly conserved across species (Fig. 2b).