Genomic coordinate 8:6,406,627
Here I present: “Primary Microcephaly”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (MCPH) 原發性小頭症。icd10=Q02
INTRODUCTION.
Microcephaly is a condition in which a baby’s head is much smaller than typical at birth.
Primary microcephaly (MCPH) refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly (HIE) which refers to a progressive neurodegenerative condition. Primary microcephaly is a disorder of fetal brain growth; individuals with primary microcephaly have small brains and almost always have impaired intellectual development, although rare individuals with mild primary microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect. Most cases of primary microcephaly show an autosomal recessive mode of inheritance. MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull.
There is evidence that primary microcephaly type-1 (MCPH1) is caused by homozygous mutation in the gene encoding microcephalin (MCPH1) on cytogenetic location 8p23.1 and genomic coordinates 8:6,406,627-6,648,508. The screenshot of the MCPH1 gene bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MCPH1 in the 8p23.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:2,045,046 | MYOM2 | Myomesin 2 |
| 8:2,935,361 | CSMD1 | Cub and Sushi multiple domains 1 |
| 8:6,300,001 | DIH2 | Diaphragmatic hernia 2 |
| 8:6,300,001 | SLEB12 | Systemic lupus erythematosus, 12 |
| 8:6,406,627 | MCPH1 | Microcephalin |
| 8:6,499,632 | ANGPT2 | Angiopoietin 2 |
| 8:6,708,642 | AGPAT5 | 1-acylglycerol-3-phosphate O-acyltransferase 5 |
| 8:6,870,592 | DEFB1 | Defensin, beta-1 |
| 8:6,924,697 | DEFA6 | Defensin, alpha-6, Paneth cell-specific |
| 8:6,935,820 | DEFA4 | Defensin, alpha-4, corticostatin |
