Here I present: “Zellweger Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. ゼルウィガー症候群。(ZWS) 泽尔维格综合症。
INTRODUCTION.
Zellweger syndrome is named after Hans Zellweger (1909–1990), an American pediatrician. Zellweger syndrome (ZWS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Peroxisomes also play a role in the biosynthesis of plasmalogens: ether phospholipids critical for the normal function of human brain and lungs. Characteristic ZWS features are craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Children with this condition do not show any significant development and usually die in the first year of life.
There is evidence Zellweger syndrome (ZWS) is caused by homozygous or compound heterozygous mutation in the peroxisome biogenesis factor-10 (PEX10) gene on cytogenetic location 1p36.32 and genomic coordinates 1:2,403,974-2,413,827 . The screenshot of the PEX10 gene 9,854 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PEX10 in the 1p36.32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:2,228,319 | SKI | SKI protooncogene |
| 1:2,300,001 | DYT13 | Dystonia 13, torsion |
| 1:2,300,001 | KONDS | Kondoh syndrome |
| 1:2,391,841 | RER1 | Retention in endoplasmic reticulum sorting receptor 1 |
| 1:2,403,974 | PEX10 | Peroxisome biogenesis factor 10 |
| 1:2,415,943 | PLCH2 | Phospholipase C, eta-2 |
| 1:2,508,537 | PANK4 | Pantothenate kinase 4 |
| 1:2,528,745 | HES5 | Hes family bHLH transcription factor 5 |
| 1:2,554,234 | TNFRSF14 | Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) |
| 1:2,590,639 | MMEL1 | Membrane metalloendopeptidase-like 1 |
