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Lethal Alleles02:41

Lethal Alleles

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A new SETX mutation producing AOA2 in two siblings.

Neil Datta1, Anna Hohler

  • 1Boston University School of Medicine, Department of Neurology, Boston, MA, USA. ndatta@bu.edu

The International Journal of Neuroscience
|April 10, 2013
PubMed
Summary
This summary is machine-generated.

This study identifies a novel SETX gene mutation. When combined with an existing mutation, it causes ataxia with oculomotor apraxia type 2 (AOA2), impacting neurological function.

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Area of Science:

  • Genetics
  • Neurology

Background:

  • Ataxia with oculomotor apraxia type 2 (AOA2) is a rare genetic disorder.
  • The Senataxin (SETX) gene is implicated in AOA2 pathogenesis.

Observation:

  • Two siblings presented with adolescent-onset neurological symptoms including speech difficulties and extraocular muscle dysfunction.
  • Family history revealed movement disorder issues in relatives.

Findings:

  • Genetic analysis revealed a novel SETX mutation (820:A>G) in conjunction with a known recessive SETX mutation (5927:T>G).
  • This compound heterozygous mutation was confirmed to cause AOA2 in the affected siblings.

Implications:

  • This research expands the known spectrum of SETX mutations associated with AOA2.
  • Understanding these genetic combinations aids in diagnosing and potentially treating AOA2.