Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation in tRNA methyltransferase gene TRMT10A has been identified. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms.
Wolcott-Rallison syndrome (H00766) is also characterized by microcephaly, short stature, and early-onset diabetes mellitus.
See also H00269 Primary microcephaly (MCPH).
Igoillo-Esteve M, Genin A, Lambert N, Desir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M
タイトル
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Kernohan KD, Tetreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J, Holcik M, Majewski J, Richer J, Boycott KM
タイトル
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
