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Case Reports
. 2017 Mar 2;17(1):14.
doi: 10.1186/s12902-017-0160-z.

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

K A Alghamdi  1 , A B Alsaedi  2 , A Aljasser  3 , A Altawil  3 , Naglaa M Kamal  4   5
Affiliations
Case Reports

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

K A Alghamdi et al. BMC Endocr Disord. .

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.

Keywords: Abnormal genitalia; Clinical features; GLIS3 mutation; Saudi.

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References

    1. 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. doi: 10.1074/jbc.M203563200. - DOI - PubMed
    1. 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
    1. 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. doi: 10.1074/jbc.M108062200. - DOI - PubMed
    1. 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. - PMC - PubMed
    1. 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. doi: 10.1093/nar/gkg776. - DOI - PMC - PubMed

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