Related Experiment Video

Updated: Apr 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations

Angela K Lucas-Herald1, Esther Kinning, Aritoshi Iida

  • 1Developmental Endocrinology Research Group (A.K.L.-H., S.F.A.), School of Medicine, University of Glasgow, Royal Hospital for Sick Children (RHSC), Yorkhill, Glasgow, G3 8SJ United Kingdom; Department of Clinical Genetics (E.K.), Southern General Hospital, Glasgow, G51 4TF United Kingdom; Laboratory of Bone and Joint Diseases (A.I., Z.W., S.I.), Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan; Department of Human Genetics (N.M.), Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; and Department of Biochemistry (J.M.), Southern General Hospital, 1345 Govan Rd, Glasgow, G51 4TF United Kingdom.

The Journal of Clinical Endocrinology and Metabolism
|February 10, 2015
PubMed

Insights

Ciliopathies, rare genetic disorders, can cause early growth retardation and pituitary issues. This case shows how IFT172 mutations link ciliopathies to growth failure, highlighting the importance of ciliary function in development.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Rare Diseases

Background:

  • Ciliopathies are rare genetic disorders with diverse clinical features.
  • Defects in the Growth Hormone/Insulin-like Growth Factor-I (GH/IGF-I) axis are common in children with short stature.
  • The connection between ciliopathies and GH/IGF-I axis dysfunction requires further investigation.

Observation:

  • A male infant presented with early growth retardation and weight gain.
  • He exhibited low IGF-I levels, pituitary hypoplasia, and an ectopic posterior pituitary.
  • Growth improved with recombinant human growth hormone (rhGH) therapy.

Findings:

  • The patient developed retinopathy, metaphyseal dysplasia, hypertension, and renal failure.
  • Whole-exome sequencing revealed compound heterozygous mutations in IFT172, confirming a ciliopathy diagnosis.
  • This is the first reported case of an IFT172 mutation presenting with early growth retardation managed as GH deficiency.

Implications:

  • This case underscores the critical role of ciliary function in pituitary development.
  • It highlights a significant link between early-onset growth failure and ciliopathies.
  • Early diagnosis and management of growth issues in suspected ciliopathy patients are crucial.
Abstract

More Related Videos

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies06:53

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies

Published on: July 4, 2017

11.8K
In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.6K

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
Nature and Nurture01:10

Nature and Nurture

Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
23.1K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
28.5K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
5.0K
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
5.1K