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2000
Volume 21, Issue 4
  • ISSN: 1573-3963
  • E-ISSN: 1875-6336

Abstract

Background

LIG4 syndrome, characterized by immunodeficiency, sensitivity to ionizing radiations, intrauterine growth retardation, postnatal growth retardation, and microcephaly, is a rare genetic disorder caused by pathogenic variants of the gene. Few patients are presented with no immune dysregulation as well.

Case Study

We present here a male child of 2 years and 4 months of age with severe microcephaly and short stature. His birth weight was 1.9 Kg, and his current height, weight, and head circumference are 83.2 cm (z score = -2.37), 9.5 Kg (z score = -2.76), and 36 cm (z score = -9.24), respectively. Possible causative pathogenic compound heterozygous variants of the gene, which were inherited from the parents, were identified by whole exome sequencing of the DNA of the patient and his parents. A systematic review of the literature is also performed to summarize the patients of LIG4 syndrome reported worldwide and summarize the associated genetic mutations of the gene. Compound heterozygous variants (c.597_600delTCAG/ c.342del) of gene were identified. The parents were found to be heterozygous carriers of one variant each.

Conclusion

The analysis of identified variants explains their effect on the structure and function of the protein hence explaining the genotype-phenotype correlation.

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/content/journals/cpr/10.2174/0115733963285549240328083623
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Novel Compound Heterozygous Mutations of LIG4 Gene in an Indian LIG4 Syndrome Patient with Severe Microcephaly: Case Report, In-silico Analysis and Systematic Review
Curr Pediatr Rev 21, 408 (2025); https://doi.org/10.2174/0115733963285549240328083623
/content/journals/cpr/10.2174/0115733963285549240328083623
/content/journals/cpr/10.2174/0115733963285549240328083623
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  • Article Type:     Case Report
Keyword(s): Case report; double-stranded DNA breaks; LIG4 syndrome; whole exome sequencing, non-homologous end joining, differential diagnosis

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