IllnessInsulin-like growth factor 1 deficiency

NGS +

Sanger

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)