MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13
1998; Springer Nature; Volume: 6; Issue: 3 Linguagem: Inglês
10.1038/sj.ejhg.5200180
ISSN1476-5438
AutoresRolf Steinmüller, Daniela Steinberger, Ulrich Müller,
Tópico(s)RNA modifications and cancer
ResumoA previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1–p22.13, to a region that is flanked by CYBB and DXS365.
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