PMC7835937_01
Clinical presentation of the proband. (A) Pedigree of the family. Transmission of the compound heterozygous variants of the HI baby were labeled in the three-generation family. (B) Clinical features of the HI baby. The fetus was covered in a thick, plate-like collodion membrane over the entire body surface at birth; the hands and feet in particular were enveloped by a wax-like cast of extremely tight skin. The features of this fetus were consistent with harlequin ichthyosis, displaying multiple malformations such as a short face, abnormal nasal bone, ear and mandible, and a cleft palate.
fgene-11-608196-g001.jpg
PMC7835937_01_fgene-11-608196-g001.jpg
F1
The woman delivered a healthy female baby at term during her first pregnancy (Figure 1A). The autopsy reports (Figure 1B) are as follows: weight, 1,990 g; body length, 42.5 cm; head circumference, 33 cm; chest circumference, 27 cm; abdomen circumference, 24 cm; no necropsy; medium nutrition; there was no obvious ectropion of eyelid and undeveloped eyeball; the distance between the two eyes was 3.5 cm on the inside and 7 cm on the outside; nose collapse, the nasal bone showed poor development; the mouth and lip were everted and edematous, fish-like, with protruding alveolar and short mandible; the development of bilateral auricles was poor and the auditory canal existed; the skin of the whole body was covered with light yellow horns (0.2 cm thick, armor-like); the hands and feet were poorly developed; the fingers and toes were all flexed and claw-like; the development of external genitalia was poor; the gender discrimination was unclear (male consideration), and there was an anus. The results suggested that the sister, the mother, as well as the maternal grandmother carried the heterozygous c.2157delA, and the father and the paternal grandmother carried the heterozygous c.6858delT (Figures 1A, 2A).
Verification of variants in the HI baby. (A) Sanger sequencing verification of the HI compound heterozygous variants identified by WES in the family. (B) Summarization of published HI variants. The variants identified in this study have been highlighted in red.
fgene-11-608196-g002.jpg
PMC7835937_01_fgene-11-608196-g002.jpg
F2
The results suggested that the sister, the mother, as well as the maternal grandmother carried the heterozygous c.2157delA, and the father and the paternal grandmother carried the heterozygous c.6858delT (Figures 1A, 2A).