[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]

To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS).

Genetic testing was carried out for a baby girl born by Cesarean section. The patient had clinical features including peculiar face, long bushy eyebrows, hypertelorism, wide sagittal suture, low-set ears, retrognathia, polydactyly and polysyndactyly of first toes, weak cry, poor suck and slow response, and was suspected as CdLS.

Sequencing of CdLS-related genes including NIPBL, SMC1A, SMC3, RAD21 and HDAC8A has identified a novel heterozygous deletional mutation of the NIPBL gene. The deletion region has encompassed exon 46 and part of exon 47. The frameshift caused by the mutation has led to significant alteration of its protein sequence.

A novel deletional mutation of the NIPBL gene has been identified, which has enriched its mutational spectrum and may facilitate further research into the genotype-phenotype correlation of CdLS.