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Genomic characterisation of C7orf10 in Silver-Russell syndrome patients
  1. E Meyer1,
  2. H A Wollmann2,
  3. T Eggermann1
  1. 1Institute of Human Genetics, RWTH Aachen, Germany
  2. 2Children’s Hospital, University of Tübingen, Germany
  1. Correspondence to:
 Dr T Eggermann, Institute of Human Genetics, Pauwelsstrasse 30, D-52074 Aachen, Germany; 
 teggermann{at}ukaachen.de

https://doi.org/10.1136/jmg.40.4.e44

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    Silver-Russell syndrome (SRS) describes a uniform malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR/PGR), asymmetry of the head and limbs, a small triangular face, and other less constant features. The majority of the 400 cases described so far occurred sporadically, but some familial cases have been reported.1 A subset of 7–10% of SRS patients shows maternal uniparental disomy (mUPD) of chromosome 7, thereby implying that imprinted gene(s) on this chromosome play a key role in the aetiology of the disease. Mutations in this gene or imprinting mutations may contribute to the SRS phenotype.

    SRS patients with chromosomal aberrations are rare. However, five SRS patients have been described carrying rearrangements in 7p.2–6 From the findings in these patients, a central role of chromosomal bands 7p12-p14 can be delineated. Nakabayashi et al6 have shown in two of these patients that the breakpoints on 7p14 were localised within the same gene, C7orf10.

    C7orf10 consists of 15 exons and spans more than 700 kb of DNA. Northern blot analyses showed that C7orf10 is mainly expressed in kidney and expression could also be observed in skeletal muscle and liver. According to Nakabayashi et al,6 the deduced protein contains a CAIB-BAIF domain. Enzymes with this domain have diverse function, such as carnitine dehydratase and fatty-acid CoA racemase. So far, the physiological function of the C7orf10 transcript is unknown.

    We decided to screen our SRS patients for mutations and genomic rearrangements of the coding region of C7orf10, in particular because of its genomic localisation within a region affected by chromosomal rearrangements. …

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