Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene [6]

Clinical Genetics

Volumn 68, Issue 6, 2005, Pages 564-566

  Zenteno, Juan Carlos ^a   Gascon Guzman, G ^b   Tovilla Canales, J L ^b  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; DNA; HIGH MOBILITY GROUP PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ANOPHTHALMIA; BRAIN MALFORMATION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HIP DISLOCATION; HOMOZYGOSITY; HUMAN; INFANT; LETTER; MEXICO; MICROPHTHALMIA; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OPEN READING FRAME; PATIENT REFERRAL; PHYSICAL EXAMINATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ANOPHTHALMOS; BASE SEQUENCE; BRAIN; FEMALE; HMGB PROTEINS; HUMANS; INFANT; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 28644438697     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00518.x     Document Type: Letter

References (10)

1. Morrison D, FitzPatrick D, Hanson I et al. National study of microphthalmia, anophthalmia, and coloboma, (MAC) in Scotland: investigation of genetic aetiology. J Med Genet 2002: 39: 16-22.
2. Warburg M. Classification of microphthalmos and coloboma. J Med Genet 1993: 30: 664-669.
3. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994: 7: 463-471.
4. Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet 2004: 115: 302-309.
5. Voronina VA, Kozhemyakina EA, O'Kernick CM et al. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004: 13: 315-322.
6. Fantes J, Ragge NK, Lynch SA et al. Mutations in SOX2 cause anophthalmia. Nat Genet 2003: 33: 461-463.
7. Kondoh H, Uchikawa M, Kamachi Y. Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiation. Int J Dev Biol 2004: 48: 819-827.
8. Ragge NK, Lorenz B, Schneider A et al. SOX2 anophthalmia syndrome. Am J Med Genet 2005: 135: 1-7.
9. Flanagan JG, Lefranc MP, Rabbitts TH. Mechanisms of divergence and convergence of the human immunoglobulin alpha 1 and alpha 2 constant region gene sequences. Cell 1984: 36: 681-688.
10. Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Mendez JP, Chavez B. Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene. Hum Genet 2003: 48: 346-351.