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

Journal of Perinatology

Volumn 34, Issue 12, 2014, Pages 948-950

  Cruz, L ^a   Schnur, R E ^a   Post, E M ^a   Bodagala, H ^a   Ahmed, R ^a   Smith, C ^a   Lulis, L B ^a   Stahl, G E ^b   Kushnir, A ^b  

^a Department of Surgery   (United States)

^b ROWAN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FERRITIN; GAMMA GLUTAMYLTRANSFERASE; HYDROCORTISONE; INSULIN; INSULIN GLARGINE; MEDIUM CHAIN TRIACYLGLYCEROL; PANCREAS ENZYME; TRYPSINOGEN;

ABDOMINAL RADIOGRAPHY; ABNORMAL FECES; AMNIOCENTESIS; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BREAST MILK; CASE REPORT; CHOLESTASIS; DIABETES MELLITUS; DUODENUM ATRESIA; ECHOGRAPHY; ENTERIC FEEDING; ERYTHROCYTE TRANSFUSION; FERRITIN BLOOD LEVEL; FERTILIZATION IN VITRO; FETUS ECHOGRAPHY; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE MUTATION; GESTATIONAL AGE; GLYCEMIC CONTROL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERGLYCEMIA; HYPOGLYCEMIA; LIVER DYSFUNCTION; MARTINEZ FRIAS SYNDROME; MICROARRAY ANALYSIS; MITCHELL RILEY SYNDROME; NEONATAL DIABETES; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS INSUFFICIENCY; PARENTERAL NUTRITION; PROTEIN BLOOD LEVEL; RFX6 GENE; SALIVARY GLAND BIOPSY; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; VAGINAL DELIVERY; WEIGHT GAIN; WEIGHT REDUCTION;

EID: 84964202985     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2014.162     Document Type: Article

References (15)

1. Martinez-Frias ML, Frias JL, Galan E, Domingo R, Paisan L, Blanco M. Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. Am J Med Genet 1992; 44: 352-355.
2. Anneren G, Meurling S, Lilja H, Wallander J, von Dobeln U. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra-and extrahepatic biliary atresia, and esophageal and duodenal atresia. Am J Med Genet 1998; 78: 306-307.
3. Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004; 47: 2160-2167.
4. Jeha GS, Venkatesh MP, Edelen RC, Kienstra KA, Karaviti L, Fernandes CJ. Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice. J Pediatr Endocrinol Metab. 2005; 18: 1095-1102.
5. Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A et al. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A 2008; 146A: 1713-1717.
6. Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M et al. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Eur J Med Genet 2010; 53: 25-28.
7. Barone JV, Tillman EM, Ferry RJ Jr. Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. J Pediatr Pharmacol Ther 2011; 16: 291-297.
8. Online Mendelian Inheritance in Man O. 2010: MIM Number 601346.
9. Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H et al. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 2014; 15: 67-72.
10. Whitington PF. Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semen Liver Dis 2007; 3: 243-250.
11. Spiegel R, Dobbie A, Hartman C, de Vries L, Ellard S, Shalev SA. Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A 2011; 155A: 2821-2825.
12. Aftab S, Semenec L, Chu JS, Chen N. Identification and characterization of novel human tissue-specific RFX transcription factors. BMC Evol Biol. 2008; 8: 226.
13. Online Mendelian Inheritance in Man O. 2010: MIM number 612659.
14. Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010; 463: 775-780.
15. Gentile M, Fiorente P. Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. Am J Med Genet 1999; 87: 82-83.