A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

Walenkamp, M.J.E.; Kamp, H.J. van der; Pereira, Alberto M.; Kant, Sarina G.; Duyvenvoorde, Hermine A. van; Kruithof, M. Femke; Breuning, Martijn H.; Romijn, Johannes A.; Karperien, Marcel; Wit, J. M.

doi:10.1210/jc.2005-1597

Cited by 134 publications

(133 citation statements)

References 32 publications

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“…The severity of the foetal growth restriction is illustrated with birth weight standard deviation scores (SDS) ranging from −2.5 to −3.5 (Table 1) 36, 37, 38, 39, 40.…”

Section: Organ‐specific Roles Of Igf‐1 In the Foetusmentioning

confidence: 99%

Insulin‐like growth factor 1 has multisystem effects on foetal and preterm infant development

et al. 2016

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Poor postnatal growth after preterm birth does not match the normal rapid growth in utero and is associated with preterm morbidities. Insulin‐like growth factor 1 (IGF‐1) axis is the major hormonal mediator of growth in utero, and levels of IGF‐1 are often very low after preterm birth. We reviewed the role of IGF‐1 in foetal development and the corresponding preterm perinatal period to highlight the potential clinical importance of IGF‐1 deficiency in preterm morbidities.ConclusionThere is a rationale for clinical trials to evaluate the potential benefits of IGF‐1 replacement in very preterm infants.

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“…The severity of the foetal growth restriction is illustrated with birth weight standard deviation scores (SDS) ranging from −2.5 to −3.5 (Table 1) 36, 37, 38, 39, 40.…”

Section: Organ‐specific Roles Of Igf‐1 In the Foetusmentioning

confidence: 99%

Insulin‐like growth factor 1 has multisystem effects on foetal and preterm infant development

et al. 2016

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“…Previous reports indicate that IGF1 and IGFBP3 levels are increased in some individuals with IGF resistance due to IGF1R mutations (7,8,10,11). Therefore, we sought additional evidence for IGF resistance by comparing circulating concentrations of IGF1 and IGFBP3 in the IGF1R variant subjects with controls (Table 2).…”

Section: Effect On Circulating Concentrations Of Igf1 and Igfbp3mentioning

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%

IGF receptor gene variants in normal adolescents: effect on stature

Kansra

Dolan

Martin

et al. 2012

European Journal of Endocrinology

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Objective: IGF1 is essential for human growth and mediates its effects through the type 1 IGF receptor (IGF1R). Our objective was to determine the frequency of certain previously reported IGF1R gene variants in the normal population and their effect on stature. Design: A cross-sectional study was conducted in a population of 2500 children enrolled in public school grades 5 through 12 for whom DNA and anthropometric data were available. Subjects were genotyped at five previously reported loci that affect receptor abundance or function. Methods: The frequency of the following IGF1R variants Arg108Gln, Lys115Asn, Arg59stop, Arg481Gln, and Arg605His was measured by a PCR-based assay. Circulating concentrations of IGF1 or IGF binding protein-3 (IGFBP3) were measured by ELISA in those affected and matched controls. Results: A scan of 1300 subjects detected none with Arg108Gln, Lys115Asn, or Arg59stop mutations. In contrast, nucleotide changes leading to heterozygosity at codon 605 were identified in nine of 2500 subjects and six of 1800 subjects at codon 481. These individuals were, on average, 4 cm shorter than the others. There were no differences in circulating concentrations of IGF1 or IGFBP3 between those with the gene variants and controls matched for sex, ethnicity, age, and BMI. Conclusion: Rare IGF1R variants exerting a moderate effect on stature are present in the general population, supporting the importance of IGF1R function in growth control and indicating that variation in height within healthy individuals may be explained, in some cases, by larger effects of a small subset of gene variants.

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“…Nas crianças foi observado em praticamente todos os casos atraso na idade óssea ao redor de 1 ano em relação à idade cronológica. A puberdade atrasada foi descrita em três pacientes do sexo feminino (16,32), porém muitos estudos não caracterizaram adequadamente o desenvolvimento puberal. Pacientes com deficiência primária de IGF-1 (33) ou com deficiência de subunidade ácido-lábil (37), que cursam com baixos valores circulantes de IGF-1, também apresentam atraso puberal, sugerindo o papel desse hormô-nio no mecanismo que regula o início da puberdade.…”

Section: Características Fenotípicas E Clínicas Dos Carreadores Das Munclassified

“…Em contraste, mutações inativadoras e deleções do gene do IGF1R em heterozigose vêm sendo relatadas de forma crescente nos últimos oito anos em pacientes com história de déficit de crescimento pré-e pós--natal (11)(12)(13)(14)(15)(16)(17)(18). Postula-se que pelo menos 2% a 3% das crianças nascidas PIGs poderiam apresentar defeitos no IGF1R (12).…”

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Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal

Leal

Canton

Montenegro

et al. 2011

Arq Bras Endocrinol Metab

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SUMÁRIOAproximadamente 10% das crianças nascidas pequenas para a idade gestacional (PIGs) não apresentam recuperação espontânea do crescimento. As causas desse déficit de crescimento pré-natal e sua manutenção após o nascimento ainda não são completamente conhecidas na maioria dos casos. Nos últimos oito anos, diversas mutações inativadoras e deleções do gene IGF1R em heterozigose foram relatadas, indicando o papel de defeitos no eixo IGFs/IGF1R como causa do déficit de crescimento. Postula-se que pelo menos 2,5% das crianças nascidas PIGs possam apresentar defeitos no gene IGF1R. O quadro clínico desses pacientes apresenta grande variabilidade quanto à gravidade do retardo de crescimento e aos parâmetros hormonais. Nos casos mais evidentes, os pacientes apresentam microcefalia, déficit cognitivo leve e valores elevados de IGF-1, associados à baixa estatura de início pré-natal. Esta revisão abordará os aspectos clínicos, moleculares e do tratamento da baixa estatura com hrGH de crianças com mutações no IGF1R. Arq Bras Endocrinol Metab. 2011;55(8):541-9 Descritores Receptor do fator de crescimento insulina-símile 1; mutação; retardo do crescimento intrauterino; transtornos do crescimento; crianças nascidas pequenas para a idade gestacional SUMMARY Approximately 10% of children born small-for-gestational age (SGA) do not show spontaneous growth catch-up. The causes of this deficit in prenatal growth and its maintenance after birth are not completely known, in most cases. Over the past eight years, several heterozygous inactivating mutations and deletions in IGF1R gene have been reported, indicating the role of defects in the IGFs/IGF1R axis as a cause of growth deficit. It has been hypothesized that at least 2.5% of children born SGA may have IGF1R gene defects. The clinical presentation of these patients is highly variable in the severity of growth retardation and hormonal parameters. In the most evident cases, patients have microcephaly, mild cognitive impairment and high levels of IGF-1, associated with short stature of prenatal onset. This review will describe the clinical, molecular and treatment of short stature with hrGH of children with mutations in the IGF1R gene. Arq Bras Endocrinol Metab. 2011;55(8):541-9

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A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

Cited by 134 publications

References 32 publications

Insulin‐like growth factor 1 has multisystem effects on foetal and preterm infant development

Insulin‐like growth factor 1 has multisystem effects on foetal and preterm infant development

IGF receptor gene variants in normal adolescents: effect on stature

Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal

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