Cohen Syndrome
| Disorder | |
|---|---|
| OMIM #: | #216550 (Click to access OMIM database) |
| Disorder: | Cohen Syndrome |
| Also known as: | COH1 HYPOTONIA, OBESITY, AND PROMINENT INCISORS PEPPER SYNDROME |
| Clinical | |
| Phenotype: | retinal dystrophy, myopia, developmental delay, seizures, cerebellar hypoplasia, microcephaly, downslanting palpebral fissures, prominent nasal bridge, prominent upper central incisors, mitral valve prolapse, single transverse palmar crease, joint hypermobiliity, short stature, hypotonia, small hands and feet |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | VPS13B |
| Base Change: | c.9260dupT |
| Amino Acid Change: | p.Leu3087Phefs*20 |
| 2 Amish | |
| Gene: | VPS13B |
| Base Change: | T>C, at nucleotide 8459 |
| Amino Acid Change: | ile 2820> thr |
| Last updated: | 2022-12-06 |
| References |
|---|
| Chu EA, Cummings A, Sala N 2nd, Sala N. (2022) Bilateral Subluxation of Microspherophakic Lens in a Child with Cohen Syndrome. J Binocul Vis Ocul Motil Aug 2:1-3. PubMed ID: 35917505 |
| Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. (2004) Cohen syndrome in the Ohio Amish. Am J Med Genet A 128(1): 23-28. PubMed ID: 15211651 |
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