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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Clinical and genetic complexity of Mitchell–Riley/Martinez–Frias syndrome

Journal of Perinatology volume 34, pages 948–950 (2014)Cite this article

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Abstract

Mitchell–Riley syndrome/Martinez–Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis. Most reported cases have been associated with homozygous or compound heterozygous mutations in the RFX6 gene, a transcriptional regulatory factor for pancreatic morphogenesis. Given the limited number of reported cases, the syndrome may be under-recognized. When the particular phenotype of MFS includes a mutation on the RFX6 gene and neonatal diabetes, it has been called Mitchell–Riley syndrome. Because of this, we propose that MFS/MRS is a symptom continuum or an RFX6 malformation complex. We report an infant with all of the key clinical features of MRS/MFS without a definable mutation in RFX6 gene, supporting the consideration of these features as a symptom complex, and raising the question of genetic heterogeneity.

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Authors and Affiliations

  1. Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA

    L Cruz & H Bodagala

  2. Division of Genetics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA

    R E Schnur & L B Lulis

  3. Division of Pediatric Endocrinology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA,

    E M Post

  4. Division of Pediatric Hematology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA

    R Ahmed

  5. Department of Clinical Pharmacology, Cooper University Health Care, Camden, NJ, USA

    C Smith

  6. Division of Neonatology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA

    G E Stahl & A Kushnir

Authors
  1. L Cruz
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  2. R E Schnur
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  3. E M Post
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  4. H Bodagala
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  5. R Ahmed
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  6. C Smith
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  7. L B Lulis
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  8. G E Stahl
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  9. A Kushnir
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Corresponding author

Correspondence to A Kushnir.

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The authors declare no conflict of interest.

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Cruz, L., Schnur, R., Post, E. et al. Clinical and genetic complexity of Mitchell–Riley/Martinez–Frias syndrome. J Perinatol 34, 948–950 (2014). https://doi.org/10.1038/jp.2014.162

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  • DOI: https://doi.org/10.1038/jp.2014.162

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