PMC6924084_01
Phenotype of the patient. a-b This patient did not have characteristic facial feathers of 14q11-q22 deletion syndrome. c The patient had normal primary dentition and agenesis of permanent teeth. d Thoracic CT showed interstitial and parenchymal lesions and bronchiectasis in both lungs (red arrow)
13039_2019_463_Fig1_HTML.jpg
PMC6924084_01_13039_2019_463_Fig1_HTML.jpg
Fig1
She did not have obvious facial anomalies but hypohidrosis and tooth agenesis (missing secondary dentition including molars and premolars) were noticed (Fig. 1a-c). Thoracic computed tomography (CT) revealed interstitial and parenchymal lesions and bronchiectasis in both lungs, dominated with interstitial lesions, and mucus plugs was found in right upper lobe and left lower lobe (Fig. 1d).
A de novo 3.1 Mb deletion on 14q13.1q21.1 was identified in the patient. The deletion encompasses 17 OMIM genes and the pLI (probability of LoF intolerant) value of each gene is shown in colors. The deletion shown is detected by CNV-seq
13039_2019_463_Fig2_HTML.jpg
PMC6924084_01_13039_2019_463_Fig2_HTML.jpg
Fig2
However, CNV-seq revealed a de novo 3.1 Mb deletion on 14q13.1q21.1 (chr14: 35,268,524-38,367,321) (Fig. 2).