PMC7078106_01
Genetic analysis, physical features (as an adult), and computed tomography (CT) of the chest at the age of 14 years. (A) Pedigree of the family: electropherograms depict the relevant sequence section around the causative C-to-T transition at position c.3028 in exon 23 and the generation of a premature stop codon at position p.Q1010*. (B) Physical features and final height (133 cm) of the patient (reproduction with permission of the patient). (C) Chest CT demonstrates bronchiolitis obliterans, lower lobe right side: small area of ground-glass opaque consolidation, swelling, and widening of bronchial tubes.
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F1
Despite growth hormone substitution from the age of 5-12 years, the patient remained growth-retarded (final body height, 133 cm; SD = 6.69) (Figure 1B). Thorax computer tomography showed areas of ground-glass opaque consolidation, swelling, and widening of the bronchial tubes (Figure 1C). Finally, WES identified a homozygous stop mutation (p.Q1010*) in the LRBA gene and established a clear diagnosis at the age of 23 years (Figure 1A).