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amish type microcephaly

MIM.607196 17q25.3

Wednesday 11 May 2005

Synopsis

- severe congenital microcephaly
- 2-ketoglutaric aciduria

Etiology

- mutations in the SLC25A19 gene (MIM.606521), which encodes a nuclear mitochondrial deoxynucleotide carrier (DNC)

References

- Kelley, R. I.; Robinson, D.; Puffenberger, E. G.; Strauss, K. A.; Morton, D. H. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am. J. Med. Genet. 112: 318-326, 2002. PMID : 12376931

- Rosenberg, M. J.; Agarwala, R.; Bouffard, G.; Davis, J.; Fiermonte, G.; Hilliard, M. S.; Koch, T.; Kalikin, L. M.; Makalowska, I.; Morton, D. H.; Petty, E. M.; Weber, J. L.; Palmieri, F.; Kelley, R. I.; Schaffer, A. A.; Biesecker, L. G. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nature Genet. 32: 175-179, 2002. PMID : 12185364