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Related Concept Videos

Lethal Alleles02:41

Lethal 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...
Alzheimer Disease l: Introduction01:29

Alzheimer Disease l: Introduction

Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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,...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

Updated: May 14, 2026

Behavioral Characterization of an Angelman Syndrome Mouse Model
11:05

Behavioral Characterization of an Angelman Syndrome Mouse Model

Published on: October 20, 2023

Angelman syndrome.

Fatima N Mahmood1, Fouad A Ali, Ayman K Ali

  • 1Department of Neuroscience, Salmaniya Medical Complex, Ministry of Health, PO Box 12, Bahrain. Tel. +973 279717. Fax. +973 9108415.

Neurosciences (Riyadh, Saudi Arabia)
|February 5, 2013
PubMed
Summary
This summary is machine-generated.

Angelman syndrome, a rare genetic disorder, was diagnosed in three children in Bahrain. Genetic testing confirmed a microdeletion on chromosome 15q11q13, a key indicator of the condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Angelman syndrome is a rare neurodevelopmental disorder.
  • Key features include severe intellectual disability, speech impairment, ataxia, seizures, and characteristic facial features.

Purpose of the Study:

  • To report the first cases of Angelman syndrome diagnosed in Bahrain.
  • To confirm the diagnosis using genetic analysis.

Main Methods:

  • Clinical assessment of three pediatric patients.
  • Fluorescence in situ hybridization (FISH) to detect microdeletions on chromosome 15q11q13.

Main Results:

  • Three children in Bahrain were diagnosed with Angelman syndrome based on clinical presentation.
  • Genetic analysis confirmed the presence of a 15q11q13 microdeletion in all three patients.

Conclusions:

  • This study establishes the presence of Angelman syndrome in Bahrain.
  • Genetic confirmation of 15q11q13 microdeletion is crucial for diagnosing Angelman syndrome.