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

Artikel i vetenskaplig tidskrift
Författare A. Gkourogianni
A. C. Andrade
B. A. Jonsson
E. Segerlund
A. Werner-Sperker
E. Horemuzova
Jovanna Dahlgren
M. Burstedt
O. Nilsson
Publicerad i Acta Paediatrica, International Journal of Paediatrics
ISSN 0803-5253
Publiceringsår 2020
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Språk en
Länkar dx.doi.org/10.1111/apa.15218
Ämnesord GH treatment, idiopathic short stature, IGF-I, IGF1R, IGFBP-3
Ämneskategorier Pediatrik

Sammanfattning

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. © 2020 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica

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