Amish, Mennonite, and Hutterite
Genetic Disorder Database

Joubert syndrome related disorder (JSRD)

Disorder
OMIM #: #614424  (Click to access OMIM database)
Disorder: Joubert syndrome related disorder (JSRD) 
Also known as: Joubert-Related Cerebello-Oculo-Renal Syndrome
Joubert Syndrome 14
JBTS14 
Clinical
Phenotype: Molar tooth sign (MTS) on cranial MRI, developmental delay/mental retardation, hypotonicity, ataxia, abnormal eye movements, coloboma, 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. 
Mutations
1   Hutterite  
Gene: TMEM237
Base Change: C>T, at nucleotide 52
Amino Acid Change: arg 18 --> term
Last updated: 2019-05-09 

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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