Amish, Mennonite, and Hutterite
Genetic Disorder Database

Tatton-Brown-Rahman syndrome

Disorder
OMIM #: #615879  (Click to access OMIM database)
Disorder: Tatton-Brown-Rahman syndrome 
Also known as: TBRS 
Clinical
Phenotype: tall stature, distinctive facial appearance, intellectual disability 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: DNMT3A
Base Change: G>A, at nucleotide 2312
Amino Acid Change: arg 771 --> gln
Last updated: 2018-12-12 

References
Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H. (2017) Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet Apr;91(4):623-628.
PubMed ID: 27701732 

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