Amish, Mennonite, and Hutterite
Genetic Disorder Database

Microcephaly, Amish type

Disorder
OMIM #: #607196  (Click to access OMIM database)
Disorder: Microcephaly, Amish type 
Also known as: Amish lethal microcephaly 
Clinical
Phenotype: microcephaly, facial appearance similar to anencephaly, micrognathia, hepatomegaly, difficulty maintaining body temperature, lethargy, increased levels of 2-ketoglutarate and 2-ketoadipate in urine, almost abscent cranial vault 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesSiu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. (2010) Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A Jul;152A(7):1747-51.
PubMed ID: 20583149
1   Amish  
Gene: SLC25A19
Base Change: G>C, at nucleotide 530
Amino Acid Change: gly 177 --> ala
Last updated: 2014-11-06 

References
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet. 112:318-326.
PubMed ID: 12376931 
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. (2002) Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet. 112:318-326.
PubMed ID: 12376931 
Rosenberg M, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard M, Koch T, Kalikin F, Makalowska I, Morton D, Petty E, Weber J, Palmieri F, Kelley R, Schaffer A, and Biesecker L. (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nature Genetics 32: 175-179.
PubMed ID: 12185364 
Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. (2010) Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A Jul;152A(7):1747-51.
PubMed ID: 20583149 

Back