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

OBJECTIVE

To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.

METHODS

Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.

RESULTS

The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.

CONCLUSION

Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.