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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
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...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

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Published on: November 5, 2019

KDM6A point mutations cause Kabuki syndrome.

Noriko Miyake1, Seiji Mizuno, Nobuhiko Okamoto

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nmiyake@yokohama-cu.ac.jp

Human Mutation
|October 19, 2012
PubMed
Summary

Kabuki syndrome (KS) is a rare genetic disorder. This study identifies point mutations in the KDM6A gene as a novel cause of Kabuki syndrome in patients without MLL2 mutations.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Kabuki syndrome (KS) is a rare congenital disorder.
  • Characterized by distinct facial features, growth deficits, skeletal anomalies, and developmental delays.
  • The MLL2 gene is implicated in 55-80% of KS cases.

Observation:

  • KDM6A gene deletions were previously noted in a few KS patients.
  • Point mutations in KDM6A had not been reported in KS.
  • This study analyzed 32 KS patients lacking MLL2 mutations.

Findings:

  • Identified two nonsense mutations and one 3-bp deletion in the KDM6A gene.
  • These mutations were found in three of the 32 KS patients studied.
  • This marks the first report of KDM6A point mutations associated with Kabuki syndrome.

Implications:

  • Expands the genetic landscape of Kabuki syndrome.
  • Suggests KDM6A is a significant causative gene for KS.
  • Aids in more comprehensive genetic diagnosis of Kabuki syndrome.