Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 337-341

  Choi, Alex ^a   Lao, Richard ^b   Ling Fung Tang, Paul ^b   Wan, Eunice ^b   Mayer, Wasima ^a   Bardakjian, Tanya ^c   Shaw, Gary M ^d   Kwok, Pui Yan ^b   Schneider, Adele ^c   Slavotinek, Anne ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c EINSTEIN MEDICAL CENTER   (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; PEROXIDASE; PEROXIDASIN; UNCLASSIFIED DRUG; INTERLEUKIN 1 RECEPTOR; PXDN PROTEIN, HUMAN; TUMOR ANTIGEN;

ANTERIOR SEGMENT DYSGENESIS; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CATARACT; CAUCASIAN; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL CATARACT; CORNEA EPITHELIUM; EXTRACELLULAR MATRIX; EYE MALFORMATION; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; GLAUCOMA; HUMAN; MALE; MICROPHTHALMIA; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; OCCUPATIONAL THERAPY; PRIORITY JOURNAL; SENSORY DEFENSIVENESS; SPEECH THERAPY; AMINO ACID SUBSTITUTION; EXOME; EYE ABNORMALITIES; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MICROPHTHALMOS; MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

AMINO ACID SUBSTITUTION; ANTIGENS, NEOPLASM; CHILD, PRESCHOOL; EXOME; EYE ABNORMALITIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MICROPHTHALMOS; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, INTERLEUKIN-1;

EID: 84928406026     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.119     Document Type: Article

References (36)

1. Fantes J, Ragge NK, Lynch SA et al.: Mutations in SOX2 cause anophthalmia. Nat Genet 2003; 33: 461-463.
2. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV: Novel SOX2 mutations and genotype phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A 2009; 149A: 2706-2715.
3. Verma AS, Fitzpatrick DR: Anophthalmia and microphthalmia. Orphanet J Rare Dis 2009; 2: 47.
4. Bardakjian T, Weiss A, Schneider AS: Anophthalmia/microphthalmia overview; in Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds): GeneReviewss [Internet]. Seattle (WA): University of Washington, Seattle, 1993-2014.
5. Slavotinek AM: Eye development genes and known syndromes. Mol Genet Metab 2011; 104: 448-456.
6. Slavotinek AM, Chao R, Vacik T et al.: VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat 2011; 33: 364-368.
7. Yahyavi M, Abouzeid H, Gawdat G et al.: ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet 2013; 2: 3250-3258.
8. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS: Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet 2013; 84: 198-199.
9. Reis LM, Semina EV: Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol 2011; 22: 314-324.
10. Dhaene B, Meire F, Claerhout I et al.: Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci 2011; 52: 324-333.
11. Reis LM, Tyler RC, Volkmann Kloss BA et al.: PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Eur J Hum Genet 2012; 20: 1224-1233.
12. Semina EV, Brownell I, Mintz-Hittner HA et al.: Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10: 231-236.
13. Ali M, Buentello-Volante B, McKibbin M et al.: Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. Mol Vis 2010; 16: 1162-1168.
14. Doucette L, Green J, Fernandez B et al.: A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly. Eur J Hum Genet 2011; 9: 293-299.
15. Semina EV, Ferrell RE, Mintz-Hittner HA et al.: A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet 1998; 19: 167-170.
16. Jamieson RV, Perveen R, Kerr B et al.: Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 2002; 11: 33-42.
17. Weng J, Luo J, Cheng X et al.: Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. Proc Natl Acad Sci USA 2008; 105: 6081-6086.
18. Mao M, Solivan-Timpe F, Roos BR et al.: Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis 2012; 18: 705-713.
19. Alzuhairy S, Abu-Amero KK, Al-Shahwan S, Edward DP: A novel CYP1B1 mutation with congenital glaucoma and total aniridia. Ophthalmic Genet 2013; 3: (epub ahead of print).
20. Bamshad MJ, Ng SB, Bigham AW et al.: Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011; 12: 745-755.
21. Slavotinek AM, Mehrotra P, Nazarenko I et al.: Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2013; 22: 696-703.
22. Wang K, Li M, Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.
23. Chang X, Wang K: wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet 2012; 49: 433-436.
24. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575-576.
25. Croen LA, Shaw GM, Jensvold NG, Harris JA: Birth defects monitoring in California: a resource for epidemiological research. Paediatr Perinat Epidemiol 1991; 5: 423-427.
26. Khan K, Rudkin A, Parry DA et al.: Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Am J Hum Genet 2011; 89: 464-473.
27. Liu Y, Carson-Walter EB, Cooper A et al.: Vascular gene expression patterns are conserved in primary and metastatic brain tumors. J Neurooncol 2010; 99: 13-24.
28. Mitchell MS, Kan-Mitchell J, Minev B et al.: A novel melanoma gene (MG50) encoding the interleukin 1 receptor antagonist and six epitopes recognized by human cytolytic T lymphocytes. Cancer Res 2000; 60: 6448-6456.
29. Castronovo V, Waltregny D, Kischel P et al.: A chemical proteomics approach for the identification of accessible antigens expressed in human kidney cancer. Mol Cell Proteomics 2006; 5: 2083-2091.
30. Bhave G, Cummings CF, Vanacore RM et al.: Peroxidasin forms sulfilimine chemical bonds using hypohalous acids in tissue genesis. Nat Chem Biol 2012; 8: 784-790.
31. Van Agtmael T, Schlötzer-Schrehardt U, McKie L et al.: Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet 2005; 14: 3161-3168.
32. Gould DB, Marchant JK, Savinova OV et al.: Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet 2007; 16: 798-807.
33. Labelle-Dumais C, Dilworth DJ, Harrington EP et al.: COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet 2011; 7: e1002062.
34. Kuo DS, Labelle-Dumais C, Gould DB: COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet 2012; 21: R97-110.
35. Meyer KJ, Axelsen MS, Sheffield VC et al.: Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatr Genet 2012; 22: 137-140.
36. Lee Y, Mattai A, Long R et al.: Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia. Psychiatr Genet 2012; 22: 206-209.