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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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,...
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,...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

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Related Experiment Video

Updated: May 31, 2026

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
07:00

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Published on: February 28, 2019

Hereditary multiple exostosis in two Nigerian siblings.

Olufemi Adelowo1, Solomon Adebayo

  • 1Olabisi Onabanjo University Teaching Hospital, Rheumatology Unit, Department of Medicine. PMB 2022, Sagamu, Ogun State, Nigeria.

BMJ Case Reports
|June 21, 2011
PubMed
Summary

Hereditary multiple exostoses (HME) is rare, especially in Black Africans. This report details two siblings with HME, aiming to increase diagnostic awareness for this skeletal dysplasia.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Radiology

Background:

  • Hereditary multiple exostoses (HME) is an autosomal dominant skeletal dysplasia.
  • HME is characterized by the development of multiple osteochondromas.
  • The condition is genetically heterogeneous, with mutations in EXT1 and EXT2 genes being the most common causes.

Purpose of the Study:

  • To report two cases of hereditary multiple exostoses in siblings.
  • To highlight the rarity of HME in Black African populations.
  • To emphasize the importance of early diagnosis and increased index of suspicion for HME.

Main Methods:

  • Clinical presentation of two siblings with radiological evidence of HME.
  • Review of existing literature on HME, particularly in African populations.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Last Updated: May 31, 2026

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Main Results:

  • The siblings presented with radiological features consistent with HME.
  • This condition is infrequently documented in Black African individuals.
  • The presentation underscores the need for heightened diagnostic suspicion.

Conclusions:

  • HME diagnosis should be considered even in rare populations.
  • Early recognition of HME is crucial for management.
  • Further research into HME prevalence in diverse ethnic groups is warranted.