LIG4 syndrome

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LIG4 Syndrome

LIG4 syndrome (pronounced: L-I-G-four syndrome) is a rare autosomal recessive disorder characterized by microcephaly, unusual facial features, growth and developmental delay, and pancytopenia. It is caused by mutations in the LIG4 gene, which is involved in the repair of DNA double-strand breaks.

Etymology

The term "LIG4 syndrome" is derived from the name of the gene that is mutated in this condition, the LIG4 gene. LIG4 stands for "DNA Ligase 4", a key enzyme in the non-homologous end joining (NHEJ) pathway of DNA repair.

Symptoms and Signs

Individuals with LIG4 syndrome may present with a variety of symptoms, including:

  • Microcephaly: A condition where the head size is significantly smaller than normal for a person's age and sex.
  • Growth and developmental delay: Slower than normal growth and development.
  • Pancytopenia: A reduction in the number of red and white blood cells and platelets.
  • Immunodeficiency: A state where the immune system's ability to fight infectious disease is compromised or entirely absent.

Diagnosis

Diagnosis of LIG4 syndrome is based on clinical features, laboratory findings, and confirmed by genetic testing showing mutations in the LIG4 gene.

Treatment

Treatment for LIG4 syndrome is symptomatic and supportive. It may include regular blood transfusions for pancytopenia, immunoglobulin replacement therapy for immunodeficiency, and other treatments as needed based on the individual's symptoms.

See Also

References


External links

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