Online Mendelian Inheritance in Man (OMIM) (original) (raw)
MICROPHTHALMIA, ISOLATED 4; MCOP4
Phenotype-Gene Relationships
| Location | Phenotype | Phenotype MIM number | Inheritance | Phenotype mapping key | Gene/Locus | Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 8q22.1 | Microphthalmia, isolated 4 | 613094 | 3 | GDF6 | 601147 |
Microphthalmia, isolated - PS251600 - 8 Entries
▼ TEXT
A number sign (#) is used with this entry because of evidence that isolated microphthalmia-4 (MCOP4) is caused by heterozygous mutation in the GDF6 gene (601147) on chromosome 8q22.
For a phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600).
▼ Molecular Genetics
[Asai-Coakwell et al. (2009)](#1 "Asai-Coakwell, M., French, C. R., Ye, M., Garcha, K., Bigot, K., Perera, A. G., Staehling-Hampton, K., Mema, S. C., Chanda, B., Mushegian, A., Bamforth, S., Doschak, M. R., and 13 others. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum. Molec. Genet. 18: 1110-1121, 2009.[PubMed: 19129173] [Full Text]") screened DNA samples from 489 patients with ocular anomalies (microphthalmia, clinical anophthalmia, and coloboma) and 81 patients with vertebral segmentation anomalies for mutations in the GDF6 gene (601147). They identified heterozygosity for 5 different missense mutations in 5 patients with isolated microphthalmia, respectively (see, e.g., 601147.0001 and 601147.0005-601147.0006); heterozygous mutations were also found in 3 patients with skeletal anomalies and in 1 patient with coloboma and preaxial polydactyly. Incomplete penetrance was demonstrated in the 2 microphthalmia cases in which parental DNA was available, with presence of the mutation in an unaffected father and an unaffected mother, respectively. None of the mutations were found in 366 controls.
▼ REFERENCES
- Asai-Coakwell, M., French, C. R., Ye, M., Garcha, K., Bigot, K., Perera, A. G., Staehling-Hampton, K., Mema, S. C., Chanda, B., Mushegian, A., Bamforth, S., Doschak, M. R., and 13 others.Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum. Molec. Genet. 18: 1110-1121, 2009. [PubMed: 19129173, related citations] [Full Text]
Creation Date:
Marla J. F. O'Neill : 10/16/2009
carol : 02/26/2014
mcolton : 2/26/2014
wwang : 5/12/2011
carol : 10/19/2009