Here I present: “Microcephaly, Epilepsy, Diabetes syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MEDS).
INTRODUCTION.
Microcephaly, Epilepsy, Diabetes syndrome (MEDS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.
There is evidence evidence that Microcephaly, Epilepsy, Diabetes syndrome Type-2 (MEDS2) is caused by homozygous mutation in the YIPL domain-family, member-5 (YIPF5) gene on cytogenetic location 5q31.3 and genomic coordinates 5:144,158,162-144,170,659 . The screenshot of the YIPF5 gene 12,498 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides YIPF5 in the 5q31.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:142,592,178 | FGF1 | Fibroblast growth factor-1 (acidic) |
| 5:142,770,377 | ARHGAP26 | RHO GTPase-activating protein 26 |
| 5:143,277,931 | NR3C1 | Nuclear receptor subfamily 3, group C, member 1 |
| 5:143,812,161 | HLA-HB1 | Minor histocompatibility antigen HB-1 |
| 5:144,158,162 | YIPF5 | Yip1 domain family, member 5 |
| 5:144,170,873 | KCTD16 | Potassium channel tetramerization domain 16 |
| 5:145,100,001 | EMP | Myeloproliferative disorder, chronic eosinophilia |
| 5:145,228,985 | PRELID2 | PRELI domain-containing protein 2 |
| 5:145,857,670 | GRXCR2 | Glutaredoxin, cysteine-rich, 2 |
| 5:145,936,578 | SH3RF2 | SH3 domain-containing RING finger protein 2 |
