title: Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.
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.
authors.affiliation: Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: L
authors.initials: L
authors.lastname: Cruz
authors.affiliation: Division of Genetics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.affiliation: Division of Pediatric Endocrinology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Post
authors.affiliation: Department of Pediatrics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: H
authors.initials: H
authors.lastname: Bodagala
authors.affiliation: Division of Pediatric Hematology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: R
authors.initials: R
authors.lastname: Ahmed
authors.affiliation: Department of Clinical Pharmacology, Cooper University Health Care, Camden, NJ, USA.
authors.forename: C
authors.initials: C
authors.lastname: Smith
authors.affiliation: Division of Genetics, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: L B
authors.initials: LB
authors.lastname: Lulis
authors.affiliation: Division of Neonatology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: G E
authors.initials: GE
authors.lastname: Stahl
authors.affiliation: Division of Neonatology, Cooper University Health Care, Cooper Medical School of Rowan University, Camden, NJ, USA.
authors.forename: A
authors.initials: A
authors.lastname: Kushnir
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics*; D005705:Gallbladder Diseases / Q000175:diagnosis* / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis; D006486:Hemosiderosis / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D000071701:Regulatory Factor X Transcription Factors; D014138:Tracheoesophageal Fistula / Q000175:diagnosis* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000071701:Regulatory Factor X Transcription Factors; C547964:Rfx6 protein, human; D014157:Transcription Factors