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A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death
  1. G E Jones1,
  2. G A Tanteles2,
  3. P C Vasudevan1,
  4. H Porter3,
  5. L Robertson1
  1. 1Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, UK
  2. 2Clinical Genetics Clinic, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus
  3. 3Histopathology Department, University Hospitals Leicester NHS Trust, Leicester, UK
  1. Correspondence to Dr Gabriela Jones, Leicester Clinical Genetics Department, University Hospitals Leicester NHS Trust, Leicester, LE1 5WW; gabriela.jones{at}uhl-tr.nhs.uk

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Introduction

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 philtrum 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).

We report an intrauterine fetal death at 41 weeks gestation with clinical features of Cornelia de Lange syndrome. A sample of spleen was stored at postmortem and subsequently DNA was extracted and sent for NIPBL gene testing, which identified a previously unreported de novo mutation, confirming the diagnosis. This allowed definitive confirmation of the diagnosis and the opportunity for prenatal testing in a subsequent pregnancy. We highlight the typical clinical features of this rare condition and demonstrate the importance of obtaining a diagnosis for other family members following a fetal death with suspected underlying genetic …

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