The 1996 case that showed what the knockout mice had shown

Published 24 October 2026 · REVIVE LAB UAE Research Desk · 5 min read
Woods, Camacho-Hübner, Savage and Clark described in the New England Journal of Medicine in 1996 a fifteen-year-old with a homozygous partial deletion of the IGF1 gene. He had been born very small, grew slowly throughout childhood, was sensorineurally deaf, had a small head and was insulin resistant, with undetectable IGF-1 and high growth hormone. The picture matched the knockout mouse and established that in humans IGF-1 is required for growth before and after birth and for inner-ear and brain development. Heterozygous IGF1R mutations, reported from 2003, cause milder growth failure.

The case

The deletion removed exons 4 and 5, producing no functional protein. Growth hormone was high because the feedback through IGF-1 was absent. Treatment with recombinant IGF-1 improved growth, confirming the defect was the ligand and not the receptor.

It remains one of very few reported human IGF1 null individuals.

Receptor mutations

Abuzzahab and colleagues reported in 2003 compound heterozygous and heterozygous IGF1R mutations in children with intrauterine growth retardation and short stature, with high rather than low IGF-1. These are milder because one functional allele remains; complete loss is presumed lethal, as in the mouse.

Together the ligand and receptor cases map the human pathway at both ends.

Why these cases matter

They move the necessity of IGF-1 from mouse genetics to human genetics. They also show the system has roles in the nervous system and metabolism beyond stature. This is physiology and genetics, not a description of any use of the material.

IGF-1 LR3 is supplied by REVIVE LAB UAE for laboratory research use only, with identity and purity documented for the batch. It is not for human or veterinary use, and no dosing, administration or protocol guidance is provided.

What it costs

FormatStrengthPriceAvailability
IGF-1 LR3 Pack1 mgAED 650In stock

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Frequently asked

The case?

The deletion removed exons 4 and 5, producing no functional protein. Growth hormone was high because the feedback through IGF-1 was absent. Treatment with recombinant IGF-1 improved growth, confirming the defect was the ligand and not the receptor.

Does REVIVE LAB UAE provide dosing guidance?

No. REVIVE LAB UAE supplies research materials and provides no dosing, administration or protocol guidance of any kind. Every product is sold for laboratory research use only and is not for human or veterinary consumption.

How fast is delivery in the UAE?

Stock is held in Dubai. An order confirmed before 4 PM Dubai time is dispatched the same working day, reaching Dubai and Abu Dhabi the same day and the remaining emirates within 24 hours. Delivery is AED 40 flat and free over AED 700.

IGF-1 LR3 Pack — in stock, dispatched from Dubai
HPLC-verified, lot certificate on every carton, 24-hour delivery nationwide. Browse the catalogue → All peptides UAE

Related reading

Supplied for laboratory research use only. Not for human or veterinary consumption. REVIVE LAB UAE provides no dosing, administration or protocol guidance.