Table 1 List of the genes located within in a deleted interval at the short arm of chromosome 3
From: Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Deleted gene | Mode of inheritance (OMIM #) | Linked disease | Gene product function | Clinical characteristics in presented case | Reference |
|---|---|---|---|---|---|
SLC25A38 | AR (205950) | Autosomal Congenital Sideroblastic Anemia (anemia sideroblastic 2, pyridoxine-refractory) | Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme | – | Guernsey et al. [14] |
RPSA | AD (271400) | Isolated Congenital Asplenia (ICA) | Ribosomal protein SA, a component of the small subunit of the ribosome, that could support controlling the production of certain proteins, which may be important in development before birth. It is also a cell surface receptor, specific for laminin | Absence of the spleen | Bolze et al. [1] |
SNORA6 | AD | Distal Arthrogryposis Type 6 (Arthrogryposis and sensorineural deafness) | – | – | |
SNORA62 | NA | Not known | – | – | – |
MOBP | Not known | Amyotrophic Lateral Sclerosis | MOBP (Myelin Associated Oligodendrocyte Basic Protein) could be responsible for compacting or stabilizing the myelin sheath, likely by binding the negatively-charged acidic phospholipids of the cytoplasmic membrane | – | van Rheenen et al. [15] |