PMC5705563_01
Pedigree of the family. Solid symbol, affected individual; circles, females; squares, males.
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F1
The 14-year-old boy is the first child of healthy parents (Figure 1).
Growth and weight charts of the patient. These charts are gender specific and refer to boys. x-axis, age (years); y-axis, height (centimeter, upper part of the figure) and weight (kilograms, lower part of the figure).
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F2
Body height was on the third percentile during infancy and early childhood (Figure 2) and a global developmental delay (including motor and speech delay) was diagnosed on regular pediatric screening examinations.
Ultrasound of the right kidney with a length of 6.2 cm (<1st percentile).
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F3
By the age of six, the right kidney had a length of 6.2 cm (<1st percentile, see Figure 3), the left kidney had a length of 5.8 cm (<1st percentile, see Figure 4).
Ultrasound of the left kidney with a length of 5.8 cm (<1st percentile).
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F4
By the age of six, the right kidney had a length of 6.2 cm (<1st percentile, see Figure 3), the left kidney had a length of 5.8 cm (<1st percentile, see Figure 4).
X-ray (detail of a babygram) of the patient at the age of 7 months showing a hook-shaped hypoplastic left clavicle.
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F5
Thoracic X-ray revealed hypoplastic clavicles (Figure 5, only left clavicle visible).
Partial nucleotide sequence of exon 3 of PBX1 of the patient and his parents showing the heterozygous de novo variant c.413_419delGGGCAGG, p.Gly138Valfs*40. Shown reference sequence: TTCTGGAGGGGCAGG. Genomic position of the variant: chr1:164761876-164761882 (hg19, transcript NM_002585.3).
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F6
The variant could not be detected in the blood DNA of both parents (Figure 6).