PMC9265212_01
The patient has coarse facial features, low-set and posteriorly rotated ears (A), a flat, upturned nose (B), sparse bitemporal scalp hair, thick eyebrows, and a wide mouth with thick lips (C).
fped-10-911954-g001.jpg
PMC9265212_01_fped-10-911954-g001.jpg
F1
Furthermore, her toenails were noted to be hyperplastic (Figure 1 and Table 1). Sanger sequencing was also performed on the parents, and they were found not to carry the same mutation (Figure 1).
PMC9265212_02
The family pedigree of patient 1. The pedigree of the family with Coffin-Siris syndrome (CSS). (a) P1 ARID2 c.2610delT; (b) P1 father ARID2 gene c.2610T (wild type); (c) P1 mother ARID2 c.2610T (wild type). The mutation is de novo in the proband, whereas the parents are wild-type. The family pedigree of patient 2. The pedigree of the family with Coffin-Siris syndrome (CSS). (d) P2 father ARID2 c.674G (wild type); (e) P2 ARID2 c.674G > A; p. Trp225 *; (f) P2 mother ARID2 c.674G > A; p. Trp225 *.
fped-10-911954-g002.jpg
PMC9265212_02_fped-10-911954-g002.jpg
F2
Trp225 *, and Sanger sequencing showed that the mutation was inherited form the mother (Figure 2).