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Fig. 3 | Acta Neuropathologica Communications

Fig. 3

From: Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

Fig. 3

Identification of the two compound heterozygous variations in the CCDC88C gene. a Pedigree structure of the family. Targeted NGS sequencing of a panel including L1CAM, MPDZ and CCDC88C was performed in fetus II.1 (red star). Whole exome sequencing (WES) was performed in fetus II.2 and his parents (I.1 and I.2; black stars). b Targeted NGS sequencing and WES identified a heterozygous frameshift variant in the CCDC88C gene, c.3807_3809delinsACCT; p.(Gly1270Profs*53), which was shown to be maternally inherited by Sanger sequencing of the fetuses and their parents. c Targeted NGS sequencing and WES also identified a heterozygous deletion of CCDC88C exon 23 (c.3967-?_c.4112-?; p.Leu1323Argfs*10), which was shown to be paternally inherited and was confirmed by a relative quantification ddPCR assay of fetus II.1 and her parents. Top: Representative result of the ddPCR assay, using of the CCDC88C gene (primers located in the exon 23, blue droplets) compared to a reference housekeeping gene (HMBS gene, green droplets). Bottom: Quantification of copy number in a control DNA (target, 1358 copies/μL; reference, 1426 copies/μL), fetus II.1 (target, 551 copies/μL; reference, 1057 copies/μL), parent I.1 (target, 1011 copies/μL; reference, 1019 copies/μL), and parent II.2 (target, 447 copies/μL; reference, 894 copies/μL). d Schematic representation of DAPLE protein organization. DAPLE contains a Hook domain, a Gα binding and activating domain (GBA), a coiled coil region, a frizzled binding domain (FBD) and a carboxy-terminal PDZ binding motif (PBM). The compound heterozygous variants identified in this study (in red) were localized in the coiled-coil domain. Published homozygous loss-of-function variants are depicted in black whereas heterozygous gain-of-function variations are represented in green (2,8–11). Nt: amino-terminal; Ct: carboxy-terminal

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