PMC9975566_01
The PHOX2B genetic variant (p.Ala248_Ala266dup) was revealed by Sanger sequencing. The figure shows a fragment of Sanger sequencing chromatogram corresponding to the polyalanine repeat and flaking regions in a control ("reference") sample (A) and in the reported patient (B). (C) The scheme illustrating the impact of the duplication on the amino acid sequence in the mutant protein. Colored boxes represent amino acid residues (blue:lysin, green:glycine, grey:alanine, magenta:leucine, and yellow:proline).
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F1
Target sequencing of PHOX2B protein-coding regions allowed us to identify a novel heterozygous genetic variant in the exon 3: NM_003924.4: c.735_791dup, (p.Ala248_Ala266dup) (Figure 1).
Hirschsprung's disease: abdomen distension.
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F2
Hirschsprung's disease was suspected due to chronic constipation, an increase in the volume of the abdomen (Figure 2).
Hirschsprung's disease. Barium enema showing reduced caliber of the rectum, followed by a transition zone to an enlarged-caliber sigmoid.
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F3
Irrigography showed narrowing of the rectum and sigmoid colon with pronounced suprastenotic expansion (Figure 3).
The disease course of the patient.
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F4