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Titolo:
STATURE IN ECUADORIANS HETEROZYGOUS FOR GROWTH-HORMONE RECEPTOR GENE E180 SPLICE MUTATION DOES NOT DIFFER FROM THAT OF HOMOZYGOUS NORMAL RELATIVES
Autore:
ROSENBLOOM AL; GUEVARAAGUIRRE J; BERG MA; FRANCKE U;
Indirizzi:
UNIV FLORIDA,COLL MED,CHILDRENS MED SERV CTR,DEPT PEDIAT,1701 SW 16THAVE GAINESVILLE FL 32608 INST ENDOCRINOL METAB & REPROD QUITO ECUADOR STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 7, volume: 83, anno: 1998,
pagine: 2373 - 2375
SICI:
0021-972X(1998)83:7<2373:SIEHFG>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
LARON SYNDROME; HEIGHT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
A.L. Rosenbloom et al., "STATURE IN ECUADORIANS HETEROZYGOUS FOR GROWTH-HORMONE RECEPTOR GENE E180 SPLICE MUTATION DOES NOT DIFFER FROM THAT OF HOMOZYGOUS NORMAL RELATIVES", The Journal of clinical endocrinology and metabolism, 83(7), 1998, pp. 2373-2375

Abstract

Heterozygosity for certain mutations of the GIS.receptor (GHR) gene has been proposed as the cause of partial resistance to GH, and there has been a recent demonstration of a dominant-negative effect of such amutation in a mother and child. To examine the effect of heterozygosity in a large genetically homogeneous population with GHR deficiency, in which a substantial number of heterozygous (carrier) subjects and homozygous normal individuals can be compared, we studied a population in Ecuador in which 70 individuals with GHR deficiency were homozygousfor the E180 splice mutation. We found that 58 heterozygous relativesof probands were not significantly shorter than 37 homozygous normal relatives [SD score (SDS) for height - 1.85 +/- 1.04 (SD) vs. -1.55 +/- 0.96, P > 0.10].When only those families with both homozygous normals and carriers were compared, the 33 heterozygous and 29 normal relatives did not differ significantly in height SDS (-1.98 +/- 1.07 vs. -1.77 +/- 0.91, P > 0.3). If heterozygosity for the E180 splice mutation mere to influence stature, heights of heterozygous parents of probandswould be expected to correlate with those of probands and of carrierswho are their offspring and not with heights of their homozygous normal children. Parental height SDS did not correlate with height SDS of affected offspring (r = 0.24). For unaffected siblings as a group or analyzed separately as normals or carriers, there was a strong correlation between parental and offspring SDS for height (P < 0.01 for all comparisons). Thus, the effect of homozygosity for the GHR mutation was so profound as to abolish parental influence on height, and there was no difference in the influence of parental stature between carrier andnoncarrier offspring. These findings demonstrate no meaningful effecton stature of heterozygosity for the E180 splice mutation of the GHR,which is a functional null mutation and, in the homozygous state, results in profound short stature from severe insulin-like growth factor-I deficiency.

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Documento generato il 28/11/20 alle ore 04:51:25