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Anterior Segment Dysgenesis and Dystrophies Panel – New

Dysgenesis of the anterior segment refers to a group of disorders that affect the development of the the anterior part of the eye including structures from the cornea to the lens. These disorders usually share clinical features and a majority of them present with glaucoma. Most genes associated with anterior segment abnormalities follow an autosomal dominant pattern of inheritance. On the other hand, corneal dystrophies refer to a heterogeneous group of bilateral, non-inflammatory diseases, which are usually restricted to the cornea. Clinically, corneal dystrophies can be divided into three groups based upon their clinical findings and the specific layer of the cornea affected. Genes that cause these disorders follow an autosomal dominant, recessive or X-linked pattern of inheritance. Anophthalmia, microphthalmia and macrophthalmia are developmental alterations that affect the formation and the size of the eyeball. The DBGen Anterior Segment Dysgenesis and Dystrophies Panel analyzes 133 genes associated to this group of disorders.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Anterior Segment Dysgenesis

  • Anophthalmia

  • Axenfeld-Rieger Syndrome

  • Corneal Dystrophies

  • Macrophthalmia

  • Microphthalmia


Panel type and genes analyzed


MEDIUM

NGS Sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

ABCB6, ACTG1, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ALDH1A3, ALX1, ARL2, ASPH, ATOH7, B3GALTL, BCOR, BMP4, BMP7, C12orf57, CDK9, CHD7, CHRDL1, CHST6, COL18A1, COL4A1, COL5A1, COL8A2, COX7B, CPAMD8, CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYGC, CYP1B1, CYP4V2, DCN, ERCC2, ERCC5, ERCC6, FBN1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GJA8, GRHL2, GRIP1, HCCS, HESX1, HMGB3, HMX1, KERA, KMT2D, KRT12, KRT3, LCAT, LOXHD1, LTBP2, MAB21L2, MAF, MFRP, MIR184, MIR204, MITF, NAA10, NDP, NLRP3, OCRL, OTX2, OVOL2, P3H2, PAX2, PAX6, PIGL, PIKFYVE, PITX2, PITX3, PLG, POLR1C, POLR1D, PORCN, PQBP1, PRDM5, PRSS56, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL1, SALL2, SALL4, SEMA3E, SHH, SIPA1L3, SIX3, SIX6, SLC38A8, SLC4A11, SLC4A4, SMCHD1, SMOC1, SOX2, SRD5A3, STRA6, SUOX, TACSTD2, TBC1D20, TBC1D32, TCF4, TCOF1, TENM3, TFAP2A, TGFBI, TMEM98, TUBGCP4, TUBGCP6, UBIAD1, VAX1, VAX2, VPS13B, VSX1, VSX2, YAP1, ZEB1, ZIC2, ZNF469

NGS sequencing of reported mutations in non-coding regions:

NLRP3 c.284-45T>C, c.3011+25C>T; PAX6 c.357+136G>A, c.357+334G>A; TCF4 c.145+42209C>A

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