Top

Published in:

Open Access 01-12-2017 | Case report

Extended clinical features associated with novel Glis3 mutation: a case report

Published in: BMC Endocrine Disorders | Issue 1/2017

Abstract

Background

Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.

Case presentation

We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism. There were associated abnormalities in the external genitalia in form of bifid scrotum, bilateral undescended testicles, microphallus and scrotal hypospadias which might be a coincidental finding.

Conclusions

We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.

Kim YS, Lewandoski M, Perantoni AO, Kurebayashi S, Nakanishi G, Jetten AM. Identification of Glis, a novelGli-related, Kruppel-like zincfinger protein containing transactivation and repressor functions. JBiol Chem. 2002;277:30901–13.CrossRef

Lamar E, Kintner C, Goulding M. Identification of NKL, a novel GliKruppel zinc-finger protein that promotes neuronal differentiation. Development. 2001;128:1335–46.PubMed

Zhang F, Nakanishi G, Kurebayashi S, Yoshino K, Perantoni A, Kim YS, Jetten AM. Characterization of Glis2, a novel gene encoding a Glirelated, Kruppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis. J Biol Chem. 2002;277:10139–49.CrossRefPubMed

Lichti-Kaiser K, ZeRuth G, Jetten AM. transcription factor GLI-SIMILAR 3 (GLIS3): implications for the development of congenital hypothyroidism. J Endocrinol Diabet Obesity. 2014;2(2):1024.

Kim YS, Nakanishi G, Lewandoski M, Jetten AM. GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions. Nucleic Acids Res. 2003;31:5513–25.CrossRefPubMedPubMedCentral

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;36:1690–702.CrossRefPubMedPubMedCentral

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(3):269–73.CrossRefPubMed

Senee V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006;38(6):682–7.CrossRefPubMed

Dimitri P, Habeb AM, Garbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales JKH, Shetty A, Hawkes D, Hattersley AT, Ellard S, De Franco E. Expanding the clinical spectrum associated with GLIS3 mutations. J Clin Endocrinol Metab. 2015;100:0000.CrossRef

10.

Dimitri P, Warner JT, Minton JAL, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW. Novel GLIS3 mutations demonstrate an extended multisystemphenotype. Eur J Endocrinol. 2011;164:437–43.CrossRefPubMed

11.

Kim YS, Kang HS, Takeda Y, Hom L, Song HY, Jensen J, et al. Glis3 regulates neurogenin 3 expression in pancreatic beta-cells and interacts with its activator, Hnf6. Mol Cells. 2012;34(2):193–200.CrossRefPubMedPubMedCentral

12.

Poll AV, Pierreux CE, Lokmane L, Haumaitre C, Achouri Y, Jacquemin P, et al. A vHNF1/TCF2-HNF6 cascade regulates the transcription factor network that controls generation of pancreatic precursor cells. Diabetes. 2006;55(1):61–9.CrossRefPubMed

13.

Kang HS, Kim YS, ZeRuth G, Beak JY, Gerrish K, Kilic G, et al. Transcription factor Glis3, a novel critical player in the regulation of pancreatic beta-cell development and insulin gene expression. Mol Cell Biol. 2009;29(24):6366–79.CrossRefPubMedPubMedCentral

14.

Yang Y, Chang BH, Chan L. Sustained expression of the transcription factor GLIS3 is required for normal beta cell function in adults. EMBO Mol Med. 2013;5(1):92–104.CrossRefPubMed

15.

Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, et al. Metaanalysisof genome-wide association studies identifies eight new locifor type 2 diabetes in east Asians. Nat Genet. 2011;44(1):67–72.CrossRefPubMedPubMedCentral

16.

Santin I, Eizirik DL. Candidate genes for type 1 diabetes modulatepancreatic islet inflammation and beta-cell apoptosis. Diabet Obes Metab. 2013;15 Suppl 3:71–81.CrossRef

17.

Paulozzi LJ, Erickson JD, Jackson RJ. Hypospadias trends in two US surveillance systems. Pediatrics. 1997;100:831–4.CrossRefPubMed

18.

Mai CT, Isenberg J, Langlois PH, Alverson CJ, Gilboa SM, Rickard R, Canfield M, Anjohrin SB, Lupo PJ, Jackson DR, Stallings EB, Scheuerle AE, Kirby RS for the National Birth Defects Prevention Network. Brief report, population-based birth defects data in the United States, 2008 to 2012: presentation of state-specific data and descriptive brief on variability of prevalence. Birth Def Res (Part A). 2015;103:972–94.CrossRef

19.

Abacı A, Çatlı G, Anık A, Böber E. Epidemiology, classification and management of undescended testes: does medication have value in its treatment? J Clin Res Pediatr Endocrinol. 2013;5(2):65–72.CrossRefPubMedPubMedCentral

Title: Extended clinical features associated with novel Glis3 mutation: a case report
Publication date: 01-12-2017
Published in: BMC Endocrine Disorders / Issue 1/2017
Electronic ISSN: 1472-6823
DOI: https://doi.org/10.1186/s12902-017-0160-z

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Extended clinical features associated with novel Glis3 mutation: a case report

Abstract

Background

Case presentation

Conclusions

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2017

Variations in diabetes remission rates after bariatric surgery in Spanish adults according to the use of different diagnostic criteria for diabetes

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Genistein treatment improves fracture resistance in obese diabetic mice

Awareness and practices regarding eye diseases among patients with diabetes: a cross sectional analysis of the CoDiab-VD cohort

Prevalence of undiagnosed type 2 diabetes in patients admitted with acute coronary syndrome: the utility of easily reproducible screening methods

Erratum to: Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page