IllnessInsulin-like growth factor 1 deficiency
Summary
Curated single gene sequence analysis according to the clinical suspicion Insulin-like growth factor 1-deficiency
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Sanger
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
IGF1 | 462 | AR |
Informations about the disease
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)
- AR
Bioinformatics and clinical interpretation
No text defined