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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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.
Sex Linked Disorders01:43

Sex Linked Disorders

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.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
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...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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X-linked disorders with cerebellar dysgenesis.

Ginevra Zanni1, Enrico S Bertini

  • 1Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù ediatric Research Hospital, 4 Piazza S. Onofrio, 00165 Rome, Italy. ginevra.zanni@opbg.net

Orphanet Journal of Rare Diseases
|May 17, 2011
PubMed
Summary

X-linked disorders with cerebellar dysgenesis (XLCD) are a diverse group of conditions affecting the cerebellum, often linked to X-chromosome gene mutations. Early genetic counseling is crucial for families due to the high risk of X-linked inheritance.

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Area of Science:

  • Genetics
  • Neurology
  • Developmental Biology

Background:

  • X-linked disorders with cerebellar dysgenesis (XLCD) represent a heterogeneous group of conditions.
  • These disorders are characterized by cerebellar defects, including hypoplasia, atrophy, or dysplasia, evident on brain imaging.
  • Neurological manifestations range from hypotonia and developmental delay to ataxia, with some cases showing normal cognitive development.

Purpose of the Study:

  • To review the genetic basis and clinical spectrum of X-linked disorders with cerebellar dysgenesis.
  • To highlight the importance of recognizing XLCD due to potential underestimation.
  • To emphasize the need for genetic counseling in families with suspected X-linked cerebellar disorders.

Main Methods:

  • Literature review of genetic and clinical data on XLCD.
  • Analysis of reported gene mutations and genomic imbalances on the X-chromosome associated with cerebellar phenotypes.
  • Summary of identified XLCD loci and inheritance patterns.

Main Results:

  • At least 15 X-chromosome genes are associated with pathological cerebellar phenotypes.
  • Eight XLCD loci have been mapped, with several families showing X-linked inheritance.
  • Recent studies link recurrent duplication syndromes in Xq28 to cerebellar hypoplasia.

Conclusions:

  • XLCD are likely underestimated, particularly in males with ataxia.
  • Families with neuroradiological and clinical signs of cerebellar disorders should be evaluated for high risk of X-linked inheritance.
  • Further research into the genetic underpinnings of XLCD is warranted.