Online Mendelian Inheritance in Man (OMIM) (original) (raw)
MICROPHTHALMIA, ISOLATED 7; MCOP7
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number | Inheritance | Phenotype mapping key | Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12p13.31 | Microphthalmia, isolated 7 | 613704 | AD | 3 | GDF3 | 606522 |
MISCELLANEOUS
- Based on report of 2 probands (last curated July 2017)
- Reduced penetrance shown in 1 family
MOLECULAR BASIS
- Caused by mutation in the growth/differentiation factor-3 gene (GDF3, 606522.0002)
Microphthalmia, isolated - PS251600 - 8 Entries
▼ TEXT
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-7 (MCOP7) is caused by heterozygous mutation in the GDF3 gene (606522) on chromosome 12p13.
For a phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
▼ Description
[Ye et al. (2010)](#1 "Ye, M., Berry-Wynne, K. M., Asai-Coakwell, M., Sundaresan, P., Footz, T., French, C. R., Abitbol, M., Fleisch, V. C., Corbett, N., Allison, W. T., Drummond, G., Walter, M. A., Underhill, T. M., Waskiewicz, A. J., Lehmann, O. J. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum. Molec. Genet. 19: 287-298, 2010.[PubMed: 19864492] [Full Text]") reported 2 patients with isolated unilateral microphthalmia and mutation in the GDF3 gene.
▼ Molecular Genetics
[Ye et al. (2010)](#1 "Ye, M., Berry-Wynne, K. M., Asai-Coakwell, M., Sundaresan, P., Footz, T., French, C. R., Abitbol, M., Fleisch, V. C., Corbett, N., Allison, W. T., Drummond, G., Walter, M. A., Underhill, T. M., Waskiewicz, A. J., Lehmann, O. J. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum. Molec. Genet. 19: 287-298, 2010.[PubMed: 19864492] [Full Text]") screened DNA samples from 449 probands with isolated microphthalmia and/or coloboma and 23 probands with skeletal or oculoskeletal phenotypes for mutations in the GDF3 gene and identified heterozygosity for missense mutations in 2 probands with unilateral microphthalmia. In 1 family, an Asian male patient and his unaffected father were both heterozygous for an L305P (606522.0002) mutation; the authors attributed the variation in phenotype to incomplete penetrance, although digenic inheritance could not be excluded. In the second family, a female patient of European ancestry was heterozygous for an R195Q (606522.0003) substitution; the mutation status of her affected mother was not reported.
▼ REFERENCES
- Ye, M., Berry-Wynne, K. M., Asai-Coakwell, M., Sundaresan, P., Footz, T., French, C. R., Abitbol, M., Fleisch, V. C., Corbett, N., Allison, W. T., Drummond, G., Walter, M. A., Underhill, T. M., Waskiewicz, A. J., Lehmann, O. J.Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum. Molec. Genet. 19: 287-298, 2010. [PubMed: 19864492, related citations] [Full Text]
Creation Date:
George E. Tiller : 1/19/2011
carol : 08/15/2017
carol : 08/03/2017
carol : 02/26/2014
mcolton : 2/26/2014
wwang : 1/20/2011