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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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,...
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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.
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Enzymes like flippase, floppase, and scramblase transfer phospholipids from one layer to another in the membrane, thereby affecting membrane asymmetry.
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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...
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Cystic Fibrosis: Pathogenesis01:23

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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.
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Phelan-McDermid Syndrome.

Gayle Leary Omansky, Elisa Abdulhayoglu, Bella Zhurbilo

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    This summary is machine-generated.

    Phelan-McDermid syndrome, a rare neurodevelopmental disorder, presents with intellectual disability and autism. This review details a complex case, covering its causes, diagnosis, and treatment strategies for Phelan-McDermid syndrome.

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    Area of Science:

    • Genetics and Neurodevelopmental Disorders

    Background:

    • Phelan-McDermid syndrome (PMS) is a rare genetic disorder.
    • It is characterized by severe intellectual disability, motor delays, and autistic traits.
    • PMS results from a deletion on the long arm of chromosome 22 (22q13 deletion).

    Observation:

    • This article presents a case study of a patient with a complicated Phelan-McDermid syndrome presentation.
    • The case highlights the challenges in diagnosing and managing this rare condition.

    Findings:

    • Review of etiology, diagnosis, and management of Phelan-McDermid syndrome.
    • Discussion of a specific complicated case to illustrate clinical features and progression.

    Implications:

    • Improved understanding of Phelan-McDermid syndrome's complex presentations.
    • Guidance for clinicians on the diagnosis and management of Phelan-McDermid syndrome.
    • Highlights the importance of genetic testing for neurodevelopmental disorders.