Extended clinical features associated with novel Glis3 mutation: a case report.
Extended clinical features associated with novel Glis3 mutation: a case report.
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DOI：
10.1186/s12902-017-0160-z
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发表时间：
2017-03-02
影响因子：
2.7
通讯作者：
Kamal NM
中科院分区：
文献类型：
--
作者：
Alghamdi KA;Alsaedi AB;Aljasser A;Altawil A;Kamal NM
编码转录因子GLIS3的GLIS3基因突变是一种罕见的新生儿糖尿病和先天性甲状腺功能减退的原因，迄今已有12名患者报告。先前描述的其他特征包括先天性青光眼、肝纤维化、多囊肾、发育迟缓、面部畸形、骨量减少、感觉神经性耳聋、后鼻孔闭锁、颅骨融合和胰腺外分泌功能不全。我们报告一例GLIS3基因新纯合突变的近亲父母，表现为新生儿糖尿病、重度难治性先天性甲状腺功能减退、胆汁淤积性肝病、双侧先天性青光眼和面部畸形。外生殖器异常表现为阴囊二裂、双侧未降睾丸、小和阴囊下裂，可能是巧合发现。我们建议新生儿糖尿病合并畸形应进行GLIS3基因突变筛查。
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. 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. We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations.