So far, all patients diagnosed with NGPS carry the mutation c.34G>A (p.Ala12Thr) in BANF1 in homozygosis, with both their parents being heterozygotic carriers. This means the patients inherited two copies of this changed gene, one from each of their parents. Parents are therefore healthy carriers of the mutation and they could potentially have more children inheriting the mutation. Some of them will also just be carriers, while those inheriting both changed copies will develop NGPS.
The protein encoded by this gene, BAF, plays a role in how the cell nucleus maintains its structure. It is believed that this mutation may affect how cells divide and repair themselves when damaged, with ongoing research focused in understanding how exactly this dysfunction causes the symptoms observed in the disease.
BANF1