Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Primary congenital glaucoma (PCG) is the most common form of glaucoma in children. PCG occurs due to the developmental defects in the trabecular meshwork and anterior chamber of the eye. The purpose of this study is to identify the causative genetic variants in three families with developmental and...

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Veröffentlicht in:	PloS one 2016-07, Vol.11 (7), p.e0159259-e0159259
Hauptverfasser:	Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Iqbal, Aftab, Khan, Muhammad Imran, den Hollander, Anneke I
Format:	Artikel
Sprache:	eng
Schlagworte:	Anterior chamber Antigens, Neoplasm - genetics Base Sequence Biology and Life Sciences Child Child, Preschool Childhood glaucoma Children Cornea Cornea - pathology CYP1B1 gene Cytochrome P-450 CYP1B1 - genetics Deoxyribonucleic acid Diagnosis DNA DNA - genetics DNA sequencing Exome - genetics Exome sequencing Extracellular matrix Female Frameshift mutation Frameshift Mutation - genetics Gene sequencing Genes Genetic aspects Genetic diversity Genetic variance Genetics Genomes Glaucoma Glaucoma - congenital Glaucoma - genetics Growth factors Heredity Humans Latent TGF-beta Binding Proteins - genetics Ltbp2 gene Male Medicine and Health Sciences Missense mutation Mutation Mutation, Missense - genetics Nucleotide sequence Pakistan Pediatrics Peroxidases Phenotypes Proteins Receptors, Interleukin-1 - genetics Risk factors Sampling methods Sequence Analysis, DNA
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