Expanding the clinical spectrum associated with GLIS3 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 10, 2015, Pages E1362-E1369

  Dimitri, P ^a   Habeb, A M ^b   Garbuz, F ^c   Millward, A ^d   Wallis, S ^e   Moussa, K ^f   Akcay, T ^g   Taha, D ^h   Hogue, J ⁱ   Slavotinek, A ^j   Wales, J K H ^k   Shetty, A ^l   Hawkes, D ^m   Hattersley, A T ⁿ   Ellard, S ⁿ   De Franco, E ⁿ  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^b Ministry of Health   (Saudi Arabia)

^c Ankara Child Dis Hematology and Oncology Training Hospital Pediatric Endocrinology and Metabolism   (Turkey)

^d PLYMOUTH HOSPITALS NHS TRUST   (United Kingdom)

^e BRADFORD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^f Kingdom of Saudi Arabia   (Saudi Arabia)

^g Kanuni Sultan Suleyman Education and Research Hospital   (Turkey)

^h WAYNE STATE UNIVERSITY   (United States)

ⁱ MADIGAN ARMY MEDICAL CENTER   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k LADY CILENTO CHILDREN S HOSPITAL   (Australia)

^l NEVILL HALL HOSPITAL   (United Kingdom)

^m ROYAL GWENT HOSPITAL   (United Kingdom)

ⁿ UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE BONE ISOENZYME; CALCIUM; ELASTASE; ERGOCALCIFEROL; INSULIN; LEVOTHYROXINE; PARATHYROID HORMONE; PHOSPHATE; THYROTROPIN; THYROXINE; GLIS3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; CHOANA ATRESIA; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; DRUG DOSE INCREASE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GLI SIMILAR 3 GENE; HEART ATRIUM SEPTUM DEFECT; HEPATITIS; HETEROZYGOTE; HIATUS HERNIA; HUMAN; INFANT; INSULIN SENSITIVITY; INTRAUTERINE GROWTH RETARDATION; KIDNEY DISEASE; LIVER CIRRHOSIS; MALABSORPTION; MALE; MISSENSE MUTATION; NEWBORN DIABETES MELLITUS; PANCREAS EXOCRINE INSUFFICIENCY; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPLEEN CYST; THYROID DISEASE; BONE DISEASES; DIABETES MELLITUS; GENETICS; INSULIN RESISTANCE; LIVER DISEASES; NEWBORN; PHENOTYPE;

BONE DISEASES; CONGENITAL HYPOTHYROIDISM; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INSULIN RESISTANCE; LIVER DISEASES; MALE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84943745552     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1827     Document Type: Article

References (28)

1. Polak M, Cave H. Neonatal diabetes mellitus: A disease linked to multiple mechanisms. Orphanet J Rare Dis. 2007;2:12.
2. Edghill EL, Flanagan SE, PatchAM,et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008;57:1034-1042.
3. De Franco E, Flanagan SE, Houghton JAL, Lano-Allen H, Mackay DJG, Temple IK, et al. Genomic testing in neonatal diabetes: A new paradigm. Lancet. In press.
4. Szinnai G. Clinical genetics of congenital hypothyroidism. Endocr Dev. 2014;26:60-78.
5. Kim YS, Nakanishi G, Lewandoski M, Jetten AM. GLIS3, a novel member of the GLIS subfamily of Krüppel-like zinc finger proteins with repressor and activation functions. Nucleic Acids Res. 2003; 31:5513-5525.
6. Beak JY, Kang HS, Kim YS, Jetten AM. Functional analysis of the zinc finger and activation domains of Glis3 and mutant Glis3 (NDH1). Nucleic Acids Res. 2008;3:1690-1702.
7. Beak JY, Kang HS, Kim YS, Jetten AM. Krüppel-like zinc finger protein Glis3 promotes osteoblast differentiation by regulating FGF18 expression. J Bone Miner Res. 2007;22:1234-1244.
8. Senée V, Chelala C, Duchatelet S, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006;38:682-687.
9. Taha D, Barbar M, Kanaan H, Williamson Balfe J. Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome? Am J Med Genet A. 2003;122A:269-273.
10. Habeb AM, Al-Magamsi MS, Eid IM, et al. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes. 2012;13:499-505.
11. Dimitri P, Warner JT, Minton JA, et al. Novel GLIS3 mutations demonstrate an extended multisystem phenotype. Eur J Endocrinol. 2011;164:437-443.
12. Ellard S, Lango Allen H, De Franco E, et al. Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia. 2013;56:1958-1963.
13. Kim YS, Kang HS, Takeda Y, et al. Glis3 regulates neurogenin 3 expression in pancreatic-cells and interacts with its activator, Hnf6. Mol Cells. 2012;34:193-200.
14. Poll AV, Pierreux CE, Lokmane L, et al. A vHNF1/TCF2-HNF6 cascade regulates the transcription factor network that controls generation of pancreatic precursor cells. Diabetes. 2006;55:61-69.
15. Kang HS, Kim YS, ZeRuth G, et al. Transcription factor Glis3, a novel critical player in the regulation of pancreatic-cell development and insulin gene expression. Mol Cell Biol. 2009;29:6366-6379.
16. Yang Y, Chang BH, Chan L. Sustained expression of the transcription factor GLIS3 is required for normal cell function in adults. EMBO Mol Med. 2013;5:92-104.
17. Santin I, Eizirik DL. Candidate genes for type 1 diabetes modulate pancreatic islet inflammation and-cell apoptosis. Diabetes Obes Metab. 2013;15(suppl 3):71-81.
18. Cho YS, Chen CH, Hu C, et al. Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. Nat Genet. 2012;44:67-72.
19. Macchia PE, Lapi P, Krude H, et al.PAX8mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998;19:83-86.
20. de Sanctis L, Corrias A, Romagnolo D, et al. Familial PAX8 small deletion (c.989-992delACCC) associated with extreme phenotype variability. J Clin Endocrinol Metab. 2004;89:5669-5674.
21. Carré A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet. 2009;18:2266-2276.
22. Liu Z, Xu J, Colvin JS, Ornitz DM. Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18. Genes Dev. 2002; 16:859-869.
23. Hashimoto H, Miyamoto R, Watanabe N, et al. Polycystic kidney disease in the medaka (Oryzias latipes) pc mutant caused by a mutation in the Gli-Similar3 (glis3) gene. PLoS One. 2009;4:e6299.
24. Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM. Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease. Mol Cell Biol. 2009;29:2556-2569.
25. Cruchaga C, Kauwe JS, Harari O, et al.GWASof cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 2013;78:256-268.
26. Bailey CG, RyanRM,Thoeng AD, et al. Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011;121:446-453.
27. Arnold PD, Sicard T, Burroughs E, Richter MA, Kennedy JL. Glutamate transporter gene SLC1A1 associated with obsessive-compulsive disorder. Arch Gen Psychiatry. 2006;63:769-776.
28. Myles-Worsley M, Tiobech J, Browning SR, et al. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:87-95.