MEHMO syndrome

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The MEHMO syndrome , acronym for M entale developmental delay , E pileptische seizures , H ypogonadismus , M ikrozephalie and O besitas , is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the eponymous main features.

Synonyms are: mental retardation, X-linked - epileptic seizures - hypogenitalism - microcephaly - obesity; English Mental Retardation, X-Linked, Syndromic 20; MRXS20; Mental Retardation, X-Linked, Syndromic 25; MRXS25

The name was suggested by the authors of the first description from 1998 by the German human geneticists Rolf Steinmüller, Daniela Steinberger and Ulrich Müller.

distribution

The frequency is given as less than 1 in 1,000,000, so far only fewer than 10 affected people have been described. Inheritance is X-linked - recessive or mitochondrial .

root cause

The disease is based on mutations on the X chromosome at locus p22.13-p21.1. This is probably the EIF2S3 gene , which codes for a translation initiation factor eIF2.

The disease can thus be counted among the X-linked mitochondrial diseases.

Clinical manifestations

Clinical criteria are:

Added to this are delayed growth , facial abnormalities such as large auricles, round face and diabetes mellitus .

Most of those affected died within the first few years of life.

literature

Individual evidence

  1. ↑ a b c MEHMO syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ R. Steinmüller, D. Steinberger, U. Müller: MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. In: European Journal of Human Genetics  : EJHG. Vol. 6, No. 3, 1998 May-Jun, pp. 201-206, doi: 10.1038 / sj.ejhg.5200180 , PMID 9781023 .
  3. ↑ MEHMO syndrome.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ M. Skopkova, F. Hennig, BS Shin, CE Turner, D. Stanikova, K. Brennerova, J. Stanik, U. Fischer, L. Henden, U. Müller, D. Steinberger, E. Leshinsky-Silver, A. Bottani, T. Kurdiova, J. Ukropec, O. Nyitrayova, M. Kolnikova, I. Klimes, G. Borck, M. Bahlo, SA Haas, JR Kim, LE Lotspeich-Cole, D. Gasperikova, TE Dever, VM Kalscheuer: EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. In: Human mutation. Vol. 38, No. 4, April 2017, pp. 409-425, doi: 10.1002 / humu.23170 , PMID 28055140 .
  5. ↑ E. Leshinsky-Silver, A. Zinger, CN Bibi, V. Barash, M. sadeh, D., Lev, TL Sagie: MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder. In: European Journal of Human Genetics  : EJHG. Vol. 10, No. 4, April 2002, pp. 226-230, doi: 10.1038 / sj.ejhg.5200791 , PMID 12032729 .

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