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Gene Review

MEHMO  -  mental retardation, epileptic seizures,...

Homo sapiens

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Disease relevance of MEHMO


Psychiatry related information on MEHMO


High impact information on MEHMO


Chemical compound and disease context of MEHMO


Biological context of MEHMO


Anatomical context of MEHMO

  • Mild HPE can consist of signs such as a single central incisor, hypotelorism, microcephaly, or other craniofacial findings that can be present with or without associated brain malformations [22].
  • Humans with autosomal recessive primary microcephaly (MCPH) show a small but otherwise grossly normal cerebral cortex associated with mild to moderate mental retardation [23].
  • Several years ago, we described two patients with infantile seizures, delayed development and acquired microcephaly who have normal circulating blood glucose, low-to-normal cerebrospinal fluid (CSF) lactate, but persistent hypoglycorrachia (low CSF glucose) and diminished transport of hexose into isolated red blood cells (RBC) [24].
  • Disruption of human neural precursor proliferation can give rise to a small brain (microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative zones near the lateral ventricles (periventricular heterotopia) [11].
  • Functional analysis shows that the mutant DNC protein lacks the normal transport activity, implying that failed deoxynucleotide transport across the inner mitochondrial membrane causes MCPHA [17].

Associations of MEHMO with chemical compounds


Other interactions of MEHMO


Analytical, diagnostic and therapeutic context of MEHMO


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  2. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. Steinmüller, R., Steinberger, D., Müller, U. Eur. J. Hum. Genet. (1998) [Pubmed]
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  9. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Baala, L., Briault, S., Etchevers, H.C., Laumonnier, F., Natiq, A., Amiel, J., Boddaert, N., Picard, C., Sbiti, A., Asermouh, A., Attié-Bitach, T., Encha-Razavi, F., Munnich, A., Sefiani, A., Lyonnet, S. Nat. Genet. (2007) [Pubmed]
  10. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Buck, D., Malivert, L., de Chasseval, R., Barraud, A., Fondanèche, M.C., Sanal, O., Plebani, A., Stéphan, J.L., Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de Villartay, J.P., Revy, P. Cell (2006) [Pubmed]
  11. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Sheen, V.L., Ganesh, V.S., Topcu, M., Sebire, G., Bodell, A., Hill, R.S., Grant, P.E., Shugart, Y.Y., Imitola, J., Khoury, S.J., Guerrini, R., Walsh, C.A. Nat. Genet. (2004) [Pubmed]
  12. Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies. Lenke, R.R., Levy, H.L. N. Engl. J. Med. (1980) [Pubmed]
  13. Moderate caffeine use and the risk of spontaneous abortion and intrauterine growth retardation. Mills, J.L., Holmes, L.B., Aarons, J.H., Simpson, J.L., Brown, Z.A., Jovanovic-Peterson, L.G., Conley, M.R., Graubard, B.I., Knopp, R.H., Metzger, B.E. JAMA (1993) [Pubmed]
  14. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. Körner, C., Knauer, R., Stephani, U., Marquardt, T., Lehle, L., von Figura, K. EMBO J. (1999) [Pubmed]
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  16. Short-term response to dietary therapy in molybdenum cofactor deficiency. Boles, R.G., Ment, L.R., Meyn, M.S., Horwich, A.L., Kratz, L.E., Rinaldo, P. Ann. Neurol. (1993) [Pubmed]
  17. Mutant deoxynucleotide carrier is associated with congenital microcephaly. 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., Schäffer, A.A., Biesecker, L.G. Nat. Genet. (2002) [Pubmed]
  18. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A., Goodship, J.A. Nat. Genet. (2003) [Pubmed]
  19. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K.M., Chrzanowska, K.H., Saar, K., Beckmann, G., Seemanová, E., Cooper, P.R., Nowak, N.J., Stumm, M., Weemaes, C.M., Gatti, R.A., Wilson, R.K., Digweed, M., Rosenthal, A., Sperling, K., Concannon, P., Reis, A. Cell (1998) [Pubmed]
  20. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Hanks, S., Coleman, K., Reid, S., Plaja, A., Firth, H., Fitzpatrick, D., Kidd, A., Méhes, K., Nash, R., Robin, N., Shannon, N., Tolmie, J., Swansbury, J., Irrthum, A., Douglas, J., Rahman, N. Nat. Genet. (2004) [Pubmed]
  21. Epileptic seizures can be anticipated by non-linear analysis. Martinerie, J., Adam, C., Le Van Quyen, M., Baulac, M., Clemenceau, S., Renault, B., Varela, F.J. Nat. Med. (1998) [Pubmed]
  22. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Wallis, D.E., Roessler, E., Hehr, U., Nanni, L., Wiltshire, T., Richieri-Costa, A., Gillessen-Kaesbach, G., Zackai, E.H., Rommens, J., Muenke, M. Nat. Genet. (1999) [Pubmed]
  23. ASPM is a major determinant of cerebral cortical size. Bond, J., Roberts, E., Mochida, G.H., Hampshire, D.J., Scott, S., Askham, J.M., Springell, K., Mahadevan, M., Crow, Y.J., Markham, A.F., Walsh, C.A., Woods, C.G. Nat. Genet. (2002) [Pubmed]
  24. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Seidner, G., Alvarez, M.G., Yeh, J.I., O'Driscoll, K.R., Klepper, J., Stump, T.S., Wang, D., Spinner, N.B., Birnbaum, M.J., De Vivo, D.C. Nat. Genet. (1998) [Pubmed]
  25. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. Levy, H.L., Waisbren, S.E. N. Engl. J. Med. (1983) [Pubmed]
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