X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family

Am J Med Genet. 1998 Mar 19;76(3):255-61.


X-linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not (nonsyndromal). We report on the clinical, neuropsychological, and laboratory findings and linkage analysis in one family with XLMR and isolated growth hormone deficiency (IGHD). Mental retardation was associated in 3 males and 5 females with short stature, microcephaly, and particular facial traits, i.e., high curved forehead, midface hypoplasia, and concave nasal bridge with nasal end of normal size and broad traits. Significant lod scores (Zmax >2) at a recombination fraction of theta = 0 were detected for 6 marker loci between DXS178 (Xq22.1) and DXS292 (Xq27.2). This mapping region overlaps that of XLMR with IGHD, recently reported by Hamel et al. [1996: Am J Med Genet 64:35-41] (Xq24-q27.3), and that of agammaglobulinemia with IGHD (Xq21.33-q22.2). This observation may confirm the suspicion of a gene involved in growth hormone regulation being localized in Xq.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Dosage Compensation, Genetic
  • Female
  • Genetic Linkage*
  • Human Growth Hormone / deficiency*
  • Humans
  • Intellectual Disability / genetics*
  • Lod Score
  • Male
  • Middle Aged
  • X Chromosome*


  • Human Growth Hormone