Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.
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Western Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, ScotlandWestern Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland
Brown, A
McKie, M
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Western Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, ScotlandWestern Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland
McKie, M
van Heyningen, V
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Western Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, ScotlandWestern Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland
van Heyningen, V
Prosser, J
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Western Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, ScotlandWestern Gen Hosp, Human Genet Unit, MRC, Edinburgh EH4 2XU, Midlothian, Scotland
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Univ Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, Lab Oncogenet, Ribeirao Preto, SP, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Pinto, G. R.
Clara, C. A.
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Hosp Canc Barretos, Fdn Pio 12, Barretos, SP, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Clara, C. A.
Santos, M. J.
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Hosp Canc Barretos, Fdn Pio 12, Barretos, SP, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Santos, M. J.
Almeida, J. R. W.
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Hosp Canc Barretos, Fdn Pio 12, Barretos, SP, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Almeida, J. R. W.
Burbano, R. R.
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Fed Univ Para, Dept Biol, Lab Citogenet Humana & Genet Toxicol, BR-66059 Belem, Para, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Burbano, R. R.
Rey, J. A.
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Hosp Univ La Paz, Dept Cirugia Expt, Oncol Mol Lab, Madrid, SpainUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
Rey, J. A.
Casartelli, C.
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Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, Lab Oncogenet, Ribeirao Preto, SP, BrazilUniv Fed Piaui, Lab Genet Humana & Biol Mol, Parnaiba, PI, Brazil
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China
Zhang, Xiaohui
Wang, Panfeng
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China
Wang, Panfeng
Li, Shiqiang
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China
Li, Shiqiang
Xiao, Xueshan
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China
Xiao, Xueshan
Guo, Xiangming
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China
Guo, Xiangming
Zhang, Qingjiong
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Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R ChinaSun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, Guangzhou 510060, Guangdong, Peoples R China