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Electronic letter
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4
  1. S W J Tompson,
  2. V L Ruiz-Perez,
  3. M J Wright,
  4. J A Goodship
  1. School of Biochemistry and Genetics, University of Newcastle, 19/20 Claremont Place, Newcastle upon Tyne NE2 4AA, UK
  1. Dr Goodship, j.a.goodship{at}ncl.ac.uk

https://doi.org/10.1136/jmg.38.6.e18

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    Editor—Our recent report describing the gene mutated in Ellis-van Creveld syndrome (EvC) included a “homozygous” mutation in an affected white subject (RA), ncl-14, whose parents were not known to be related.1 The patient's mother and father have died but we have now studied a paternal DNA sample. Analysis of this sample showed that the single nucleotide insertion in exon 7 (910-911 InsA) identified in the patient was not present in her father. The simplest explanation for this would have been a paternally inherited deletion. However, the father was heterozygous for two intronic polymorphisms (IVS7+4 T→C and IVS7+10 A→G) in the PCR product spanning exon 7, …

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