Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at theta = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome.
Hamel
B C
BC
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Smits
A P
AP
Otten
B J
BJ
van den Helm
B
B
Ropers
H H
HH
Mariman
E C
EC
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
D019382:Human Growth Hormone