Results: 4

1.
Figure 3

Figure 3. From: X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development.

CHRDL1 Is Expressed in the Developing Anterior Segment and Cornea
(A) RT-PCR of human eye tissues showing CHRDL1 expression in the developing cornea from week 7 of gestation continuing into adulthood. CHRDL1 is also expressed in the developing lens and retina and in adult trabecular meshwork. PAX6 (MIM 607108) was used as a control.
(B–H) In situ hybridization of CHRDL1 in the human eye at week 8 of gestation (Carnegie fetal stage F1; sagittal sections) showing expression in the neural retina (NR), and the anterior periocular mesenchyme (arrowheads) of the developing anterior segment angle and cornea. The following abbreviations are used: A, anterior segment angle; C, cornea; L, Lens; En, corneal endothelium; St corneal stroma; Ep, corneal epithelium; LEp, lens epithelium. Sense probe control is shown in (D). The scale bars represent 200 μm (A and D), 100 μm (C), 50 μm (E–G), and 20 μm (H).

Tom R. Webb, et al. Am J Hum Genet. 2012 February 10;90(2):247-259.
2.
Figure 2

Figure 2. From: X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development.

CHRDL1 Mutations Cause X-Linked Megalocornea
(A) X chromosome dense array comparative genomic hybridization for family 1 revealed a deletion within the disease interval of approximately 240 kb that encompassed the 3′ end of CHRDL1. Genes are schematically represented against the position on the X chromosome.
(B) The deletion breakpoint sequence is shown with chromosome X:109726503 joined to sequence chromosome X:109964527 sequence (238,024 bp deleted; hg19 genome build). Microhomology at the deletion breakpoints is highlighted (2 bp; AG).
(C) Schematic of CHRDL1 with patient mutations identified in families 2–6. Nonsense, frameshift, splicing, and missense mutations were identified in exons 3, 4, 8, and 9. Patient sequence electropherograms are shown above control sequence electropherograms.
(D) Schematic of segmental deletion identified in family 7. The deletion encompasses the entire CHRDL1 gene and extends distally to PAK3. The first untranslated exon of PAK3 isoforms 206 and 207 (Ensembl nomenclature hg19 genome build) is also deleted.

Tom R. Webb, et al. Am J Hum Genet. 2012 February 10;90(2):247-259.
3.
Figure 1

Figure 1. From: X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development.

X-Linked Megalocornea Families and Phenotype
(A) Pedigree structure of six families with X-linked megalocornea (MGC1); family 7 has been described elsewhere (pedigree 1 in Mackey et al. 2 ). Black boxes denote affected males; dotted circles, carrier females; clear boxes and circles, unaffected individuals.
(B) Right eye of individual II:3 of family 1 showing a greater than average cornea diameter and a white ring at the limbus (arcus juvenilis, arrow). The superior gap in the iris is from cataract surgery (surgical iridectomy, arrowhead).
(C) Mosaic corneal degeneration of the central corneal stroma (arrowhead) of individual II:1 of family 1.
(D) Axial ultrasound image performed through closed eyelid of the left eye of individual II:2 in family 3 showing a greatly enlarged anterior segment (A), whereas the posterior segment (P) is relatively normal; L is used as an abbreviation of lens.
(E) Optical coherence tomography image of the anterior segment of individual II:1 in family 1 showing thinning of the entire cornea, limbus to limbus, and a deep anterior chamber. Measurements taken for central corneal thickness, anterior chamber depth, and anterior chamber diameter are included.

Tom R. Webb, et al. Am J Hum Genet. 2012 February 10;90(2):247-259.
4.
Figure 4

Figure 4. From: X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development.

Lack of Ventroptin Function Results in Loss of White Matter or Tract Integrity in Specific Brain Regions
(A) CHRDL1 is differentially expressed in fetal brain regions. Pooled data for four fetal human brains (18, 19, 21, and 23 weeks of gestation) and 13 probes covering CHRDL1 exons are shown for specific brain regions (x axis) on a Log2 scale (y axis). CHRDL1 is expressed in all brain regions tested, with highest expression in cerebellum and neocortex. The following abbreviations are used: F_ms, motor somatosensory neocortex; PreF, prefrontal cortex (orbital dorsolateral, medial and ventrolateral prefrontal neocortex); Par, parietal association neocortex; Occ, occipital visual neocortex; T_aud, temporal auditory neocortex; T_ass, temporal association neocortex; Hipp, hippocampus; Str, striatum; Thal, mediodorsal thalamus; Cbl, cerebellum. Box plots represent median and 25th–75th percentiles. Upper and lower lines show minimum and maximum values, respectively.
(B and C) White matter volume is reduced in patients lacking ventroptin function. (B) voxel-based morphometry showing focal white matter volume reductions (color code red, false discovery rate, p < 0.05, cluster size ≥ 100) and (C) white matter volume reductions (color coded yellow and highlighted with arrows) after family-wise error correction (FWE, p = 0.05, T > 7.4).
(D) Significant fractional anisotropy (FA) decrease in specific brain regions. Tract-based spatial statistics were superimposed on the MNI152 template. Significant FA decrease was observed compared to values in healthy controls. The color scaled red to yellow shows the group skeleton (without difference in FA value); the color green indicates skeletal voxels with a significant FA reduction of at least p = 0.05 (noncorrected).

Tom R. Webb, et al. Am J Hum Genet. 2012 February 10;90(2):247-259.

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