Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, skeletal anomalies, developmental delay/mental retardation, ptosis of eyelid or blepharophimosis, hearing impairment, short stature, ossification abnormalities, late eruption of teeth, cataracts 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: LONP1
Base Change: c.2161C>G
Amino Acid Change: p.Arg721Gly
Last updated: 2018-04-20 

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 

Back