Table 1.
Genetic Syndromes of Diabetes.
| Gene | Protein | Syndrome | Inheritance |
|---|---|---|---|
| INS | Insulin | Permanent Neonatal Diabetes Mellitus | Autosomal domiant |
| EIF2AK3 | PERK | Walcott-Rallison Syndrome | Autosomal recessive |
| EIF2S | eIF2γ | MEHMO Syndrome | X-linked recessive |
| PPP1R15B | CReP | MSSGM2 | Autosomal recessive |
| DNAJC3 | p58IPK | ACPHD | Autosomal recessive |
| IER3IP1 | IER3IP1 | MEDS | Autosomal recessive |
| WFS1 | Wolframin | Wolfram Syndrome 1 | Autosomal recessive* |
| CISD2 | CISD2 | Wolfram Syndrome 2 | Autosomal recessive |
MEHMO = Mental Retardation, Epileptic Seizures, Hypogonadism, and Hypogenitalism, Microcephaly, and Obesity; MSSGM2 = Microcephaly, short stature, and impaired glucose metabolism-2; ACPHD = Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss, and Diabetes Mellitus; MEDS = Microcephaly, Epilepsy, and Diabetes Syndrome.
The majority of Wolfram syndrome 1 cases are autosomal recessive, however a small subset of patients carry only one mutant WFS1 allele.