Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family

Diabetes and Metabolism

Volumn 39, Issue 3, 2013, Pages 276-280

  Bonnefond, A ^a,b,c   Vaillant, E ^a,b,c   Philippe, J ^a,b,c   Skrobek, B ^a,b,c   Lobbens, S ^a,b,c   Yengo, L ^a,b,c   Huyvaert, M ^a,b,c   Cave H ^d   Busiah, K ^e,f   Scharfmann, R ^e   Polak, M ^e,f   Abdul Rasoul, M ^g   Froguel, P ^a,b,c,h   Vaxillaire, M ^a,b,c  

^a France   (France)

^b INSTITUT PASTEUR DE LILLE   (France)

^c UNIV LILLE   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e INSERM   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g KUWAIT UNIVERSITY   (Kuwait)

^h HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Genetics; Homozygosity mapping; MNX1; NDM; Neonatal diabetes mellitus; ROH; SNP; Transcription factor

Indexed keywords

INSULIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 6; TRANSCRIPTION FACTOR MNX1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DIABETES MELLITUS; EMBRYO; EPITHELIUM; FEMALE; FETUS; GENE IDENTIFICATION; GENE MAPPING; GENE REPLICATION; HOMOZYGOSITY; HUMAN; INSULIN TREATMENT; INTRON; MESENCHYME; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PANCREAS ISLET; PANCREAS ISLET BETA CELL; PERMANENT NEONATAL DIABETES MELLITUS; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CONSANGUINITY; DIABETES MELLITUS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84878764479     PISSN: 12623636     EISSN: 18781780     Source Type: Journal    
DOI: 10.1016/j.diabet.2013.02.007     Document Type: Article

References (19)

1. Vaxillaire M., Bonnefond A., Froguel P. The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab 2012, 26:171-187.
2. Babenko A.P., Polak M., Cave H., Busiah K., Czernichow P., Scharfmann R., et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006, 355:456-466.
3. Smith S.B., Qu H.Q., Taleb N., Kishimoto N.Y., Scheel D.W., Lu Y., et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010, 463:775-780.
4. Allen H.L., Flanagan S.E., Shaw-Smith C., De Franco E., Akerman I., Caswell R., et al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet 2012, 44:20-22.
5. Bonnefond A., Sand O., Guerin B., Durand E., De Graeve F., Huyvaert M., et al. GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes. Diabetologia 2012, 55:2845-2847.
6. McQuillan R., Leutenegger A.L., Abdel-Rahman R., Franklin C.S., Pericic M., Barac-Lauc L., et al. Runs of homozygosity in European populations. Am J Hum Genet 2008, 83:359-372.
7. Woods C.G., Cox J., Springell K., Hampshire D.J., Mohamed M.D., McKibbin M., et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 2006, 78:889-896.
8. Castaing M., Duvillie B., Quemeneur E., Basmaciogullari A., Scharfmann R. Ex vivo analysis of acinar and endocrine cell development in the human embryonic pancreas. Dev Dyn 2005, 234:339-345.
9. Harrison K.A., Thaler J., Pfaff S.L., Gu H., Kehrl J.H. Pancreas dorsal lobe agenesis and abnormal islets of Langerhans in Hlxb9-deficient mice. Nat Genet 1999, 23:71-75.
10. Tavtigian S.V., Deffenbaugh A.M., Yin L., Judkins T., Scholl T., Samollow P.B., et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 2006, 43:295-305.
11. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
12. Ng P.C., Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31:3812-3814.
13. Bonnefond A., Lomberk G., Buttar N., Busiah K., Vaillant E., Lobbens S., et al. Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. J Biol Chem 2011, 286:28414-28424.
14. Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. J Biol Chem 1994, 269:19968-19975.
15. Li H., Arber S., Jessell T.M., Edlund H. Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9. Nat Genet 1999, 23:67-70.
16. Li H., Edlund H. Persistent expression of Hlxb9 in the pancreatic epithelium impairs pancreatic development. Dev Biol 2001, 240:247-253.
17. Dalgin G., Ward A.B., Hao le T., Beattie C.E., Nechiporuk A., Prince V.E. Zebrafish mnx1 controls cell fate choice in the developing endocrine pancreas. Development 2011, 138:4597-4608.
18. Thompson N., Gesina E., Scheinert P., Bucher P., Grapin-Botton A. RNA profiling and chromatin immunoprecipitation-sequencing reveal that PTF1a stabilizes pancreas progenitor identity via the control of MNX1/HLXB9 and a network of other transcription factors. Mol Cell Biol 2012, 32:1189-1199.
19. Cretolle C., Pelet A., Sanlaville D., Zerah M., Amiel J., Jaubert F., et al. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum Mutat 2008, 29:903-910.