This syndrome is caused by mutations in the NSD1 gene. Complete deletion of the NSD1 gene on 5q35 is the cause of 50% of cases of this syndrome. It is characterized by an excessive physical growth during early infancy, premature bone aging, acromegaly and non-progressive cerebral disorder accompanied by mental retardation. Affected children have larger than normal limbs since birth. Its incidence is estimated to be 1/12.000 births.
We perform an MLPA technique, employing multiple probes recognizing specific DNA sequences in the region of interest, enabling us to detect deletions of specific sequences known to be responsible for ~50% of all cases.
This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.