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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessInsulin-like growth factor 1 deficiency


Short information

Curated single gene sequence analysis according to the clinical suspicion Insulin-like growth factor 1-deficiency

Number of genes
1 Accredited laboratory test
Examined sequence length
0,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

The somatotropic axis is the main hormonal regulator of growth. Growth hormone (GH), somatotropin, and insulin-like growth factor 1 (IGF1) are the key components of the somatotropic axis. The GH effect of promoting growth occurs mainly through IGF-1 production. Circulating IGF-1 is predominantly produced by the liver. IGF1 mutations are exceedingly rare, and homozygous defects lead to pre- and postnatal short stature, microcephaly and intellectual impairment. Carriers of heterozygous IGF1 mutations had reduced height and head circumference. A heterozygous frameshift mutation in IGF1 was associated with short stature and microcephaly in two siblings. The DNA-diagnostic yield should be very high and a negative sequencing result should exclude the clinical diagnosis of IGF1 deficiency.

Referenz: https://doi.org/10.20945/2359-3997000000191


  • Alias: Growth delay due to insulin-like growth factor type 1 deficiency
  • Alias: Growth delay-deafness-intellectual disability syndrome
  • Alias: IGF1 deficiency
  • Alias: Primary insulin-like growth factor deficiency
  • Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
Heredity, heredity patterns etc.
  • AR
ICD10 Code

Bioinformatics and clinical interpretation

No text defined