Joubert syndrome related disorder
| Disorder | |
|---|---|
| OMIM #: | #614424 (Click to access OMIM database) |
| Disorder: | Joubert syndrome related disorder |
| Also known as: | JSRD Joubert-Related Cerebello-Oculo-Renal Syndrome Joubert Syndrome 14 JBTS14 |
| Clinical | |
| Phenotype: | Molar tooth sign (MTS) on cranial MRI, developmental delay, hypotonia, ataxia, abnormal eye movements, coloboma, Dandy-Walker malformation, other central nervous system abnormalities, malar flattening, polydactyly, cystic kidneys, hypertension, renal insufficiency, hypertelorism, nystagmus, strabismus, ptosis, open mouth with downturned corners, arched eyebrows, short philtrum with tented upper lip |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | What appears to have been first diagnosed as Meckel syndrome has been determined to most likely be JSRD. Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | TMEM237 |
| Base Change: | C>T, at nucleotide 52 |
| Amino Acid Change: | arg 18 --> term |
| Last updated: | 2023-02-01 |
| References |
|---|
| Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. Am J Med Genet A 143A(15):1715-25. PubMed ID: 17603801 |
| Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet Dec 9;89(6):713-30. PubMed ID: 22152675 |
| Romani M, Micalizzi A, Valente EM. (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol Sep;12(9):894-905. PubMed ID: 23870701 |
| Schurig V, Bowen P, Harley F, Schiff D. (1980) The Meckel syndrome in the Hutterites. Am J Med Genet 5(4):373-81. PubMed ID: 7395917 |
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