PMC9178278_01
PMC9178278_02
(A) 30 mm x 20 mm x 30 mm encephalocele in occipital region at birth in the younger brother. (B) MRI brain on day 2 of life from the younger brother.
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F1
There was a 30 mm x 20 mm x 30 mm encephalocele seen at the occipital region, and it was cystic on palpation (Figure 1A). There was no definite brain tissue within the sac but evidence of meningeal and vascular contents attached to the cerebellum (Figure 1B).
(A) The Pedigree of this Chinese family with biallelic changes in the COL18A1 gene; (B) Integrated Genomics Viewer (IGV) screenshot of variant c.3931_3932delinsT inherited from father; (C) IGV screenshot of Variant 1222-1G>A inherited from mother.
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PMC9178278_02_fneur-13-853918-g0002.jpg
F2
Whole exome sequencing (WES) testing was performed for all four individuals of this family (Figure 2). With correlation of the patients' clinical phenotypes, compound heterozygous variants in the COL18A1 gene (NM_001379500.1) were detected, including the maternally inherited variant c.1222-1G>A and the paternally inherited variant c.3931_3932delinsT p.(Gly1311Serfs*25) (Figure 2).