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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Variants in CIB2 cause DFNB48 and not USH1J.

K T Booth1,2, K Kahrizi3, M Babanejad3

  • 1Department of Otolaryngology, Head and Neck Surgery, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, IA, USA.

Clinical Genetics
|November 8, 2017
PubMed
Summary
This summary is machine-generated.

Variants in the CIB2 gene cause autosomal recessive non-syndromic hearing loss (ARNSHL). This study provides evidence that CIB2 variants do not cause Usher syndrome (USH), clarifying diagnosis for patient care.

Keywords:
CIB2DFNB48USH1JUsher syndromedeafnessnon-syndromic hearing loss

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Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Deafness-causing genes exhibit diverse mutations and phenotypes, including non-syndromic hearing loss (NSHL) and Usher syndrome (USH).
  • The CIB2 gene has been implicated in both NSHL (DFNB48 locus) and USH (USH1J locus).

Purpose of the Study:

  • To characterize the phenotypic spectrum of CIB2 variants in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL).
  • To determine if CIB2 variants cause ARNSHL or USH.

Main Methods:

  • Genetic analysis of 6 families with ARNSHL.
  • Segregation analysis of CIB2 variants, including novel loss-of-function (LOF) and missense variants.

Main Results:

  • Biallelic LOF variants in CIB2 were found to cause ARNSHL.
  • Evidence suggests CIB2 is not a USH-causing gene.
  • This study differentiates CIB2-related ARNSHL from USH.

Conclusions:

  • CIB2 variants causing ARNSHL do not lead to Usher syndrome.
  • Accurate diagnosis of NSHL versus USH is crucial for patient management and intervention strategies.
  • This research clarifies the role of CIB2 in genetic hearing loss.