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

Acta paediatrica (Oslo, Norway : 1992) - 1 Oct 2020

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

Abstract excerpt

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:...

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PMID: 32037650
DOI: 10.1111/apa.15218

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