Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness
Figure 1
X-linked Megalocornea Families A–J.
(A) Pedigree of Families A–G. Black shaded squares denote clinically and genetically confirmed affected males; grey shaded squares denote clinically diagnosed affected males but DNA samples were not available for testing; dotted circles denote genetically confirmed carrier females; ? = presumed carrier females but DNA samples were not available for testing; clear squares and circles denote unaffected individuals. Arrowhead indicates proband in each family. Control sequence electropherogram is shown above patient sequence. (B) Pedigree of Family H and sequence electropherogram showing a 9,033 bp deletion encompassing CHRDL1 exon 5 and 8 bp insertion. (C) Pedigree of Families I and J. Deletion of the entire CHRDL1 gene (exon 1 to exon 12) in the proband is shown in agarose gel images. The flanking genes, RGAG1 and PAK3 are present. NTC, non-template control (D) Schematic representation of presence or absence of the CHRDL1 gene and flanking genes RGAG1 and PAK3 (Ensembl nomenclature hg19 genome build) in Families I and J.