A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death

摘要

Cornelia de Lange syndrome (MIM #122470) is a genetic condition that is characterised by typical facial features, growth restriction, developmental delay, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Characteristic facial features include synophrys, arched eyebrows, long eyelashes, small upturned nose, small widely spaced teeth, long and smooth phil-trum with down-turned corners of the mouth and microcephaly.1 Cornelia de Lange syndrome exhibits genetic heterogeneity; heterozygous mutations in five genes (NIPBL, SMC1A, RAD21, SMC3 and HDAC8) of the cohesin complex and its regulators have been found in affected patients.2 The majority (60%) are the result of NIPBL gene mutations.3 Although the majority of cases are de novo, it can be inherited in either autosomal dominant (NIPBL, SMC3, RAD21) or X linked recessive manner (SMC1A, HDAC8).