Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

Clinical Genetics

Volumn 88, Issue 5, 2015, Pages 468-473

  Slavotinek, A M ^a,b   Garcia, S T ^c   Chandratillake, G ^c   Bardakjian, T ^d   Ullah, E ^a,e   Wu, D ^a   Umeda, K ^a   Lao, R ^b   Tang, P L F ^b   Wan, E ^b   Madireddy, L ^b   Lyalina, S ^b   Mendelsohn, B A ^a   Dugan, S ^f   Tirch, J ^c   Tischler, R ^c   Harris, J ^c   Clark, M J ^c   Chervitz, S ^c   Patwardhan, A ^c   West, J M ^c   Ursell, P ^a   de Alba Campomanes, A ^a   Schneider, A ^d   Kwok, P Y ^b   Baranzini, S ^b   Chen, R O ^c   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Personalis Inc ^*  (United States)

^d EINSTEIN MEDICAL CENTER   (United States)

^e QUAID I AZAM UNIVERSITY   (Pakistan)

^f CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

Author keywords

Anophthalmia microphthalmia; COL4A1; Exome sequencing; FBLN1; PNPT1

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 6; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SOX2; COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4; EXORIBONUCLEASE; MEMBRANE PROTEIN; OTX2 PROTEIN, HUMAN; PNPT1 PROTEIN, HUMAN; RETINOIC ACID RECEPTOR; RETINOIC ACID RECEPTOR BETA; STRA6 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX;

ANOPHTHALMIA; ARNOLD CHIARI MALFORMATION; ARTICLE; CARDIOMYOPATHY; CATARACT; CLEFT PALATE; CLINICAL ARTICLE; COLOBOMA; DEVELOPMENTAL DISORDER; DIAPHRAGM HERNIA; DISEASE COURSE; EXOME; EYE DEVELOPMENT; EYE MALFORMATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KLIPPEL FEIL SYNDROME; MALE; MICROCEPHALY; MICROPHTHALMIA; PERCEPTION DEAFNESS; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; RETINA DETACHMENT; SEIZURE; VASCULAR RING; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; METABOLISM; MUTATION;

ANOPHTHALMOS; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; EXOME; EXORIBONUCLEASES; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MICROPHTHALMOS; MUTATION; OTX TRANSCRIPTION FACTORS; RECEPTORS, RETINOIC ACID;

EID: 84943356614     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12543     Document Type: Article

References (21)

1. Bardakjian T, Weiss A, Schneider AS. Anophthalmia/microphthalmia overview. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, 1993-2004.
2. Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab 2011: 104: 448-456.
3. Balikova I, de Ravel T, Ayuso C et al. High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol 2011: 151: 1087-1094.
4. Raca G, Jackson CA, Kucinskas L et al. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med 2011: 13: 437-442.
5. 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 2009: 149A: 2706-2715.
6. Fares-Taie L, Gerber S, Chassaing N et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet 2013: 92: 265-270.
7. Chassaing N, Causse A, Vigouroux A et al. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet 2014: 86: 326-334.
8. Prokudin I, Simons C, Grigg JR et al. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet 2014: 22: 907-915.
9. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009: 25: 1754-1760.
10. Ramu A, Noordam MJ, Schwartz RS et al. DeNovoGear: de novo indel and point mutation discovery and phasing. Nat Methods 2013: 10: 985-987.
11. Srour M, Chitayat D, Caron V et al. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 2013: 93: 765-772.
12. Asai-Coakwell M, French CR, Ye M et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet 2009: 18: 1110-1121.
13. Aldahmesh MA, Khan AO, Mohamed JY et al. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med 2012: 14: 955-962.
14. Shah S, Ellard S, Kneen R et al. Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 2012: 54: 569-574.
15. Colin E, Sentilhes L, Sarfati A et al. Fetal intracerebral hemorrhage and cataract: think COL4A1. J Perinatol 2014: 34: 75-77.
16. Deml B, Reis LM, Maheshwari M et al. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. Clin Genet 2014: 86: 475-481.
17. von Ameln S, Wang G, Boulouiz R et al. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am J Hum Genet 2012: 91: 919-927.
18. Vedrenne V, Gowher A, De Lonlay P et al. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am J Hum Genet 2012: 91: 912-918.
19. Debeer P, Schoenmakers EF, Twal WO et al. The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet 2002: 39: 98-104.
20. 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 (R1): R97-R110.
21. Young TL, Guo XD, King RA et al. Identification of genes expressed in a human scleral cDNA library. Mol Vis 2003: 9: 508-514.