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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra ; Andrade, Anenisia C. ; Jonsson, Björn‐Anders ; Segerlund, Emma ; Werner‐Sperker, Antje ; Horemuzova, Eva ; Dahlgren, Jovanna ; Burstedt, Magnus ; Nilsson, Ola

Acta Paediatrica, 2020-10, Vol.109 (10), p.2067-2074 [Periódico revisado por pares]

Norway: Wiley Subscription Services, Inc

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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment
Autor: Gkourogianni, Alexandra ; Andrade, Anenisia C. ; Jonsson, Björn‐Anders ; Segerlund, Emma ; Werner‐Sperker, Antje ; Horemuzova, Eva ; Dahlgren, Jovanna ; Burstedt, Magnus ; Nilsson, Ola
Assuntos: Body Height ; Child ; Children ; GH treatment ; Growth Disorders - drug therapy ; Growth Disorders - genetics ; Growth hormone ; Growth Hormone - therapeutic use ; Growth hormones ; Heterozygote ; Humans ; Idiopathic short stature ; IGF-I ; IGF1R ; IGFBP-3 ; Insulin ; Insulin-Like Growth Factor I ; Medicin och hälsovetenskap ; Microcephaly ; Microcephaly - drug therapy ; Microcephaly - genetics ; Mutation ; Pediatrics ; Pediatrik ; Phenotypes ; Physical growth ; Receptor, IGF Type 1 - genetics
É parte de: Acta Paediatrica, 2020-10, Vol.109 (10), p.2067-2074
Notas: Funding information
The work by ON, AG, ACA, was supported by grants from the Swedish Research Council (project K2015‐54X‐22736‐01‐4 & 2015‐02227), the Swedish Governmental Agency for Innovation Systems (Vinnova) (2014‐01438), Marianne and Marcus Wallenberg Foundation, the Stockholm County Council, the Swedish Society of Medicine, Novo Nordisk Foundation (grant NNF16OC0021508), Erik och Edith Fernström Foundation for Medical Research, Nyckelfonden, HKH Kronprinsessan Lovisas förening för barnasjukvård, Sällskapet Barnavård, Stiftelsen Frimurare Barnhuset i Stockholm, and Karolinska Institutet, Stockholm, Sweden, and Örebro University, Örebro, Sweden.
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Descrição: Aim To explore the phenotype and response to growth hormone in patients with heterozygous mutations in the insulin‐like growth factor I receptor gene (IGF1R). Methods Children with short stature, microcephaly, born SGA combined with biochemical sign of IGF‐I insensitivity were analysed for IGF1R mutations or deletions using Sanger sequencing and Multiple ligation‐dependent probe amplification analysis. Results In two families, a novel heterozygous non‐synonymous missense IGF1R variant was identified. In family 1, c.3364G > T, p.(Gly1122Cys) was found in the proband and co‐segregated perfectly with the phenotype in three generations. In family 2, a de novo variant c.3530G > A, p.(Arg1177His) was detected. Both variants were rare, not present in the GnomAD database. Three individuals carrying IGF1R mutations have received rhGH treatment. The average gain in height SDS during treatment was 0.42 (range: 0.26‐0.60) and 0.64 (range: 0.32‐0.86) after 1 and 2 years of treatment, respectively. Conclusion Our study presents two heterozygous IGF1R mutations causing pre‐ and postnatal growth failure and microcephaly and also indicates that individuals with heterozygous IGF1R mutations can respond to rhGH treatment. The findings highlight that sequencing of the IGF1R should be considered in children with microcephaly and short stature due to pre‐ and postnatal growth failure.
Editor: Norway: Wiley Subscription Services, Inc
Idioma: Inglês

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Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment

Gkourogianni, Alexandra ; Andrade, Anenisia C. ; Jonsson, Björn‐Anders ; Segerlund, Emma ; Werner‐Sperker, Antje ; Horemuzova, Eva ; Dahlgren, Jovanna ; Burstedt, Magnus ; Nilsson, Ola

Norway: Wiley Subscription Services, Inc

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