Amish, Mennonite, and Hutterite
Genetic Disorder Database

Fragile X Mental Retardation Syndrome

Disorder
OMIM #: #300624  (Click to access OMIM database)
Disorder: Fragile X Mental Retardation Syndrome 
Also known as: FRAGILE X SYNDROME
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28, X-LINKED MENTAL RETARDATION AND MACROORCHIDISM, MARKER X SYNDROME, MARTIN-BELL SYNDROME 
Clinical
Phenotype: developmental delay/mental retardation, aggresive behaviour, attention deficits, developmental delay, tremors, ataxia, more common in males 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesCross HE, McKusick VA. (1967) The Troyer Syndrome: a recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16:473-485.
PubMed ID: 6022528
1   Old Order Mennonite, Old Colony Mennonite  
Gene: FMR1
Base Change: (CGG)n expansion
Amino Acid Change:
Last updated: 2010-07-22 

References
Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JK, Richards S, Verkerk AJMH, Holden JJ, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67: 1047-1058.
PubMed ID: 1760838 
Kirkilionis AJ, Chudley AE, Greenberg CR, Yan DL, McGillivray B, Hamerton JL. (1992) Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons. Am J Med Genet 43(3):588-91.
PubMed ID: 1605253 
Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A(8):1072-87.
PubMed ID: 18348259 

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