World Journal of
Pharmaceutical and Life Sciences

ANTICIPATORY DETECTION OF LIG4 SYNDROME: CONTRIBUTION OF GENETIC DIAGNOSIS IN A HIGH-RISK SIBLING GROUP

Hajar Ed-Dukar*, Rachid Abilkassem, Alain Verloes

ABSTRACT

LIG4 syndrome is a rare autosomal recessive DNA repair disorder characterized by microcephaly, facial dysmorphism, combined immunodeficiency, and bone marrow failure. Early diagnosis is essential for timely therapeutic intervention. We report two Moroccan siblings with LIG4 syndrome in a retrospective descriptive study. The older brother, confirmed by whole-exome sequencing, presented with developmental delay, dysmorphic features, recurrent infections, pancytopenia, and died at 14 years. Genetic analysis revealed compound heterozygous variants in the LIG4 gene (c.1271_1275del and c.847A>G). The younger brother, evaluated phenotypically at 7 months, showed growth retardation, microcephaly, dysmorphic face, combined immunodeficiency, and pancytopenia. He is currently awaiting hematopoietic stem cell transplantation from a compatible sibling donor. These cases illustrate the clinical variability of LIG4 syndrome and underscore the importance of anticipatory genetic diagnosis in affected families to guide early management and genetic counseling.

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