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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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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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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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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.
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Lesson: Translation
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Updated: Mar 28, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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FTO variant associated with malformation syndrome.

Luis Rohena1,2, Michelle Lawson3, Edwin Guzman1

  • 1Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.

American Journal of Medical Genetics. Part A
|December 25, 2015
PubMed
Summary

Fat mass and obesity-associated gene (FTO) loss-of-function mutations cause lethal malformation syndromes. This study identifies a new FTO variant linked to a similar syndrome, expanding the known phenotype.

Area of Science:

  • Genetics
  • Human Physiology
  • Molecular Biology

Background:

  • Common variants in the fat mass and obesity-associated (FTO) gene are linked to obesity.
  • Rare homozygous FTO variants (c.947G>A [p.R316Q] and c.956C>T [p.S319F]) are associated with autosomal recessive malformation syndromes.
Keywords:
exome sequencingfat mass-and obesity-associated gene (FTO)multiple congenital anomaliesvariant mutation

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