[Analysis of clinical features and genetic variants in an infant with Bloom syndrome]

Area of Science:

• Genetics
• Pediatrics
• Molecular Biology

Background:

• Bloom syndrome is a rare autosomal recessive genetic disorder.
• It is characterized by chromosomal instability, genomic instability, and a high risk of cancer.
• Growth retardation is a significant clinical manifestation, particularly in infancy.

Observation:

• A 13-month-old child presented with symptoms including loss of appetite, severe growth retardation, microcephaly, and a small mandible.
• The child was born full-term but small for gestational age.
• Clinical data was collected and analyzed.

Findings:

• High-throughput sequencing and Sanger sequencing were employed to detect genetic variants.
• Compound heterozygous variants, c.1068+3A>C and c.1069-1G>C, were identified in the BLM gene.
• Both identified BLM gene variants were previously unreported.

Implications:

• This case expands the known spectrum of genetic variants associated with the BLM gene.
• The findings underscore the importance of early diagnosis and genetic analysis in managing Bloom syndrome.
• Understanding novel variants contributes to improved genetic counseling and potential therapeutic strategies for Bloom syndrome.