Related Experiment Video
Updated: Jul 27, 2026
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Autosomal recessive osteopetrosis in Arab children
Y K Abdel-Al1, I S Shabani, M M Lubani
1Department of Paediatrics, Adan Hospital, Kuwait.
Annals of Tropical Paediatrics
|January 1, 1994
Summary
Osteopetrosis in Arab children is often autosomal recessive, presenting with anemia, infections, and neurological issues. High mortality from infection highlights the need for prompt diagnosis and care.
Area of Science:
- Pediatrics
- Genetics
- Medical Research
Background:
- Osteopetrosis is a rare genetic disorder affecting bone resorption.
- Understanding its prevalence and clinical features in specific populations is crucial for early diagnosis and management.
Purpose of the Study:
- To describe the clinical characteristics, genetic forms, and outcomes of osteopetrosis in Arab children in Kuwait.
- To identify common presenting symptoms and associated conditions.
Main Methods:
- Retrospective review of 19 Arab children diagnosed with osteopetrosis over a 5-year period.
- Analysis of clinical data, including symptoms, genetic subtypes, parental consanguinity, and mortality.
Main Results:
- Nineteen children (6 boys, 13 girls) diagnosed with osteopetrosis.
- Predominantly autosomal recessive form (18/19 patients).
- High parental consanguinity (68%), common symptoms include anemia, hepatosplenomegaly, failure to thrive, infections, and neurological issues. Mortality rate was 37% due to infection.
Conclusions:
- Osteopetrosis in this cohort is primarily autosomal recessive with significant morbidity and mortality.
- Early detection and comprehensive management are vital for improving outcomes in affected children.
Related Concept Videos
01:11Genetic Lingo
Overview
01:35Pedigree Analysis
Overview
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:20The 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,...
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,...
01:31Osteoclasts in Bone Remodeling
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
01:29Bone Disorders
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...