2004
DOI: 10.1530/eje.0.1510521
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Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts

Abstract: Objective: It has been suggested that mono-allelic deletion of the IGF-I receptor gene is causally related to severe intrauterine and postnatal growth deficiency whereas no IGF-I resistance was observed in the patients' fibroblasts. The expression and regulation of the growth-modulating IGF binding proteins (IGFBPs) have been investigated in serum and fibroblasts of a short girl with mono-allelic loss of the distal long arm of chromosome 15 (15q26.1-qter). Patient and methods:The mono-allelic loss of the IGF-I… Show more

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Cited by 11 publications
(11 citation statements)
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“…Common phenotypic features of these children include intrauterine growth retardation, postnatal growth failure, microcephaly, facial abnormalities (high arched palate, abnormal ears, and hypertelorism), skeletal abnormalities (clinodactyly, club feet, and scoliosis), and mental retardation. In vitro, fibroblasts from patients with partial 15q26.13qter monosomy display decreased IGF-I ligand binding and IGF-IR tyrosine kinase activation, whereas those from trisomy 15q26.13qter patients display increased IGF-IR phosphorylation (17,21). These data are consistent with an IGF-IR gene dosage effect of the human IGF1R gene, but leave unresolved the role of the IGF1R vs. other genes within the affected region of chromosome 15.…”
Section: Discussionmentioning
confidence: 57%
“…Common phenotypic features of these children include intrauterine growth retardation, postnatal growth failure, microcephaly, facial abnormalities (high arched palate, abnormal ears, and hypertelorism), skeletal abnormalities (clinodactyly, club feet, and scoliosis), and mental retardation. In vitro, fibroblasts from patients with partial 15q26.13qter monosomy display decreased IGF-I ligand binding and IGF-IR tyrosine kinase activation, whereas those from trisomy 15q26.13qter patients display increased IGF-IR phosphorylation (17,21). These data are consistent with an IGF-IR gene dosage effect of the human IGF1R gene, but leave unresolved the role of the IGF1R vs. other genes within the affected region of chromosome 15.…”
Section: Discussionmentioning
confidence: 57%
“…For P2, SNP microarray analysis identified an unique heterozygous interstitial deletion of approximately 0.282 Mb on chromosome 15 [46 XY del(15)q26.3(99,438,083–99,720,341)]. This region includes exons 4 to 21 of the IGF1R gene (Figure 2B), the deletion of which resulted in loss of ~75% of the IGF1R coding sequences, in addition to three other genes that have unknown phenotypic effects ( PGPEP1L, SYNM and TTC23) .…”
Section: Resultsmentioning
confidence: 99%
“…Analysis was subsequently expanded to CNV discovery, applying the XHMM algorithm (17). A total of 27 CNVs (16 deletions and 11 duplications) were successfully detected in the patient’s sample, including a large 4.492 Mb heterozygous deletion on chromosome 15 [46 XX del(15)(q26.2:qter)(97,970,832–102,463,314)] (Figure 2C). The CNV was not present in either the parents, or in the 189 additional exomes that were simultaneously analyzed, suggesting the 4.492 Mb deletion was de novo in P3.…”
Section: Resultsmentioning
confidence: 99%
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