case_images: PMC11424414_01
case_images: PMC11424414_02
case_images: PMC11424414_03
case_images: Genetic examination and family study of variants in the ALDH7A1 gene. (A). Integrative genomics viewer (IGV) visualization of read alignments in the region of ALDH7A1 exon 4 with marked identified two variants in the proband and Sanger sequencing results confirming NGS' finding. (B). Analysis of the inheritance of ALDH7A1 variants in proband (II-1) and hid parents (I-1, I-2), confirming the biallelic localization of identified variants in exon 4 of the gene.
case_images: fgene-15-1464556-g001.jpg
case_images: PMC11424414_03_fgene-15-1464556-g001.jpg
case_images: F1
case_images: Arg110Ter (c.328C>T), see Figure 1A. The segregation analysis of the ALDH7A1 gene variants in the proband's family, by direct Sanger sequencing of the gene's regions carrying identified mutations, indicated that both variants were inherited; see Figure 1B.
case_images: PMC11424414_04