Cornelia de Lange Syndrome (CdLS) is a very rare genetic disorder present from birth, but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges and affects both genders equally. The present study described eight unrelated Chinese children who present with delayed growth and small stature, developmental delay, unusual facial features, limb abnormalities and a wide range of health conditions. Targeted-next generation sequencing using the Agilent SureSelect XT Inherited Disease Panel was used to screen for causal variants in the genome, and the clinically-relevant variants were subsequently verified using Sanger sequencing. In our study, DNA sequencing identified eight gene variations in these patients, of which, 6 was novel. In Patient 1(P1), we found a heterozygous mutation of c.6109-1G>A in NIPBL gene (novel). In P2, we found a heterozygous mutation of c.6854_6855delAG (p.Gln2285Argfs*3) in NIPBL gene (novel). In P3, we found a heterozygous mutation of c.2342G>A (p.Cys781Phe) in SMC1A gene (reported). In P4, a heterozygous mutation of c.5683A>G (p.Arg1895Gly) in NIPBL gene was confirmed (novel). P5 had a novel heterozygous mutation of c.3344G>A (p.Trp1115*) in NIPBL gene. P6, a heterozygous mutation of c.1553_1554delAG (p.Glu518Valfs*18) in RAD21 gene (reported) was found. P7 had a novel heterozygous mutation of c.5615T>A (p.Leu1872His) in NIPBL gene. P8, we found a heterozygous mutation of c.6763+5G>T in NIPBL gene. These findings not only expands upon the mutation spectrum of gene variations in CdLS, but also broaden our understanding of the clinical features of CdLS.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology