PMC9359072_01
Clinical characters of the patient (A) Facial anomalies in the patient, including facial asymmetry, micrognathia, malformed ear, dental dysplasia, and a high-arched palate. (B) Feet anomalies showed broad and foreshortened halluces. (C) Peripheral blood smear revealed small spherocytes (red arrows). (D) Brain CT showed calcification in the bilateral lenticular nucleus, dorsal thalamus, and posterior horn of lateral ventricle.
fendo-13-914863-g001.jpg
PMC9359072_01_fendo-13-914863-g001.jpg
f1
Physical examination revealed the following characteristics: height, 165.0 cm; weight, 50.0 kg; body mass index, 18.36 kg/m2; facial asymmetry; micrognathia; up-slanting palpebral fissure; malformed ear; dental dysplasia; high-arched palate ( Figure 1A ); and broad and foreshortened halluces ( Figure 1B ). Morphological examination of a peripheral blood smear revealed small spherocytes ( Figure 1C ). Brain CT showed calcification in the bilateral lenticular nucleus, dorsal thalamus, and posterior horn of the lateral ventricle ( Figure 1D ).
Genetic analysis of the patient (A) CNV-seq analysis revealed a large deletion of 7.05 Mb of 8p11 in chromosome 8. (B) CNV-seq analysis revealed an in-frame deletion of exons 48-55 in the DMD gene in chromosome X. (C) Chromosome ideogram. The impaired chromosomal region is highlighted, a 7.05-Mb region of hemizygous loss in Chr8p11.2 (Chr8: 35541034-42587731). Ninety-four genes are located in the hemizygous loss region of Chr8p11.2, including 43 OMIM genes. Genes are labeled by different colors from unlikely haploinsufficient to likely haploinsufficient, according to DECIPHER (). High ranks indicate that a gene is more likely to exhibit haploinsufficiency; low ranks indicate a gene is more likely not to exhibit haploinsufficiency.
fendo-13-914863-g002.jpg
PMC9359072_01_fendo-13-914863-g002.jpg
f2
Table 3 ), and a large in-frame deletion of exons 48-55 in the DMD gene (chrX: g.31639827-31904558). These abnormalities were confirmed by copy number variation (CNV)-seq analysis ( Figures 2A, B ).