The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology
Open accessAbstract
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinically examined and detailed pregnancy, medical, and family histories obtained. A simple, rational, and apparently robust classification of the eye phenotype was developed based on the presence or absence of a defect in closure of the optic (choroidal) fissure. A total of 85/122 (69.7%) of cases had optic fissure closure defects (OFCD), 12/122 (9.8%) had non-OFCD, and 25/122 (20.5%) had defects that were unclassifiable owing to the severity of the corneal or anterior chamber abnormality. Segregation analysis assuming single and multiple incomplete ascertainment, respectively, returned a sib recurrence risk of 6% and 10% in the whole group and 8.1% and 13.3% in the OFCD subgroup. Significant recurrence risks were found in both unilateral and bilateral disease. In four families, one parent had an OFCD, two of which were new diagnoses in asymptomatic subjects. All recurrences in first degree relatives occurred in the OFCD group with a single first cousin recurrence seen in the non-OFCD group. A total of 84/122 of the MAC cases were screened for mutations in the coding regions of PAX6, CHX10, and SIX3. No pathogenic mutations were identified in the OFCD cases. A single PAX6 homeodomain missense mutation was identified in a subject with partial aniridia that had been initially misclassified as coloboma.
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Cites
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
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THE EFFECT OF METHODS OF ASCERTAINMENT UPON THE ESTIMATION OF FREQUENCIES
FISHER, R. A. (1934) · Annals of Eugenics · doi:10.1111/j.1469-1809.1934.tb02105.x · Cited by 548
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
Wallis, D. E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri-Costa, A., Gillessen-Kaesbach, G., Zackai, E. H., Rommens, J., & Muenke, M. (1999) · Nature Genetics · doi:10.1038/9718 · Cited by 431
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Ferda Percin, E., Ploder, L. A., Yu, J. J., Arici, K., Jonathan Horsford, D., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., et al. (2000) · Nature Genetics · doi:10.1038/78071 · Cited by 288
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Regulation of left-right asymmetry by thresholds of Pitx2c activity
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The ‘singles’ method for segregation analysis under incomplete ascertainment
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Cited by
Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512203 · Cited by 361
Self-citationHeterozygous Mutations of OTX2 Cause Severe Ocular Malformations
Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/430721 · Cited by 310
Self-citationChou, C. M., Nelson, C., Tarlé, S. A., Pribila, J. T., Bardakjian, T., Woods, S., Schneider, A., & Glaser, T. (2015) · Cell · doi:10.1016/j.cell.2015.03.006 · Cited by 76
Metadata
- Authors
- Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K., van Heyningen, V, Fleck, B., Jones, I., Chalmers, J., & Campbell, H.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2002-01
- Volume
- 39
- Issue
- 1
- Pages
- 16-22
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2017841489
- Cited by
- 271
- References
- 11
- FWCI
- 4.17
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Morrison, D., FitzPatrick, D., Hanson, I., Williamson, K., van Heyningen, V, Fleck, B., Jones, I., Chalmers, J., & Campbell, H. (2002). National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. Journal of Medical Genetics. https://doi.org/10.1136/jmg.39.1.16
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