2011
DOI: 10.1210/jc.2010-1789
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Abstract: The novel heterozygous mutation described in this study reduced IGF1R expression and represents haploinsufficiency of the IGF1R gene. Our results indicate that this mutation in the IGF1R gene leads to abnormalities in the function of IGF1R and also retards intrauterine and subsequent growth in humans.

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Cited by 58 publications
(52 citation statements)
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“…Few patients with IGF1R mutations have been reported (8,9,10,11,12,13,14,15,16,17,18,19,20,21). In all of them except two (8,20), mutations were in the heterozygous state.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Few patients with IGF1R mutations have been reported (8,9,10,11,12,13,14,15,16,17,18,19,20,21). In all of them except two (8,20), mutations were in the heterozygous state.…”
Section: Discussionmentioning
confidence: 99%
“…Severe IGF1 deficiency due to a homozygous mutation in the IGF1 gene results in intrauterine and postnatal growth failure, microcephaly, intellectual disability, and deafness (3,4,5,6). Mutations in the IGF1R gene in the heterozygous state have been recently described as a cause of IUGR (7) and lead to partial resistance to IGF1 and contribute to IUGR with postnatal growth failure, microcephaly, and normal or increased levels of serum IGF1 and IGF binding protein 3 (IGFBP3), sometimes associated with modestly impaired intellectual development (8,9,10,11,12,13,14,15,16,17,18,19,20,21). Skeletal and cardiac abnormalities might also be mainly present in patients with terminal deletion of chromosome 15q including the IGF1R locus (22), but these conditions are possibly caused by deletion of other genes.…”
Section: Introductionmentioning
confidence: 99%
“…Thus, it has been assumed that mutations in the IGF-IR gene are probably not a common cause of intrauterine growth retardation (IUGR) in humans [5]. However, recently heterozygous IGF-IR mutations presenting with intrauterine and postnatal growth retardation have been observed in10 families [6][7][8][9][10][11][12][13], including a patient we had previously reported [9]. In this review, we describe current knowledge of familial short stature with IGF-IR gene anomaly.…”
mentioning
confidence: 98%
“…Because we made our measures in the postpubertal state, it is conceivable that there is a developmental or age-sensitive effect of the variants on circulating IGF1 concentrations that disappears postpuberty. However, increased concentrations of IGF1 and IGFBP3 have not been uniformly observed in other cases of biologically significant IGF1R mutations, including some with severe short stature (6,9,15,16). The exact reasons for this are unclear but likely reflect the wide variation in serum levels among the general population and the multiple variables influencing circulating IGF1 concentrations.…”
Section: Discussionmentioning
confidence: 99%
“…Normal abundance and function of the IGF1R is critical for normal growth as evidenced by gene deletion studies in mice (4) and reports of humans with variation in IGF1R number and sequence (5,6,7,8,9,10,11,12,13,14,15,16,17). Homozygous Igf1r null mice are very small at birth and do not survive, and all affected humans described to date have genetic lesions compatible with partial IGF1R function.…”
Section: Introductionmentioning
confidence: 99%