Genomic coordinate 9:128,504,692
Here I present: “Lethal Congenital Contracture Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GLE1) 致死性先天性攣縮綜合徵。icd10=Q68.8
INTRODUCTION.
Lethal congenital contracture syndrome (LCCS) is an inherited disorder characterized by severe, permanent joint contractures present at birth. It is typically fatal in the early neonatal period.
CAUSES:
LCCS is caused by mutations in various genes that play a role in fetal joint development and movement. The exact cause is unknown in many cases.
SYMPTOMS:
1. Multiple joint contractures, usually involving the arms, legs, and spine.
2. Limited or absent fetal movement.
3. Small jaw (micrognathia).
4. Pulmonary hypoplasia (underdeveloped lungs).
5. Skeletal muscle atrophy.
TYPES:
There are several types of LCCS, including: LCCS type-1 (Finnish type), LCCS type-2, LCCS type-3 (Israeli type), and LCCS type-4.
Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis, a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
There is evidence that lethal congenital contracture syndrome type-1 (Finnish type) is caused by mutation in the RNA export mediator (GLE1) gene encoded on cytogenetic location 9q34.11 and genomic coordinate 9:128,504,692. RNA export mediators are proteins or complexes that facilitate the transport of RNA molecules (mainly mRNA, but also tRNA, rRNA, and snRNA) from the nucleus to the cytoplasm through the nuclear pore complex (NPC). Defects in RNA export mediators can lead to: Neurodegenerative disorders (e.g., ALS, FTD linked to disrupted nuclear export).
