CODAS syndrome
| Disorder | |
|---|---|
| OMIM #: | #600373 (Click to access OMIM database) |
| Disorder: | CODAS syndrome |
| Also known as: | Cerebral, ocular, dental, auricular, skeletal anomalies syndrome |
| Clinical | |
| Phenotype: | cerebral, ocular, dental, auricular, and skeletal anomalies, developmental delay, ptosis, blepharophimosis, short stature, late eruption of teeth, cataracts, atrial and ventricular septal defect, vocal cord paresis, glottic narrowing, joint hypermobility, polyhydramnios, various skeletal defects |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | LONP1 |
| Base Change: | c.2161C>G |
| Amino Acid Change: | p.Arg721Gly |
| 2 Old Colony Mennonite | |
| Gene: | LONP1 |
| Base Change: | c.2026C>T |
| Amino Acid Change: | pro 676 --> ser |
| Last updated: | 2022-12-06 |
| References |
|---|
| Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. (2001) Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: first report of an affected male and review of literature. Am. J. Med. Genet. 102:44-47. PubMed ID: 11471171 |
| Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, and Chudley AE. (1991) Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome--a case report. Am J Med Genet 40(1): 88-93. PubMed ID: 1887855 |
| Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. (2015) CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet 96(1):121-35. PubMed ID: 25574826 |
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