Genomic coordinate 7: 92,487,025
Here I present: “Infantile Refsum Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 嬰兒雷夫蘇姆病。icd10=G60.1
INTRODUCTION.
Infantile Refsum disease (IRD) is an autosomal recessive congenital peroxisome biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.
Peroxisome biogenesis disorder type-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa. While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood.
There is evidence peroxisome biogenesis disorder type-1B is caused by homozygous or compound heterozygous mutation in the peroxisome biogenesis factor-1 (PEX1) gene on cytogenetic location 7q21.2 and genomic coordinates 7:92,487,025-92,528,520. The screenshot of the PEX1 gene 41,496 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PEX1 in the 7q21.2 is shown BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:92,198,969 | KRIT1 | KRIT1 ankyrin repeat-containing protein 1 |
| 7:92,245,974 | ANKIB1 | Ankyrin repeat- and IBR domain protein 1 |
| 7:92,447,482 | GATAD1 | GATA zinc finger domain-containing protein 1 |
| 7:92,468,380 | ERVW1 | Endogenous retroviral family W, member 1 |
| 7:92,487,025 | PEX1 | Peroxisome biogenesis factor-1 |
| 7:92,528,795 | RBM48 | RNA-binding motif protein 48 |
| 7:92,604,921 | CDK6 | Cyclin-dependent kinase 6 |
| 7:93,099,518 | SAMD9 | Sterile alpha motif domain-containing protein 9 |
| 7:93,130,056 | SAMD9L | Sterile alpha motif domain-containing 9-like |
| 7:93,188,534 | HEPACAM2 | Hepacam family member 2 |
