The main cause of Langer-Giedon syndrome is the absence of functional copies of the TRPS1 and EXT1 genes on th 8q24.11-8q24.13 region. It is characterized by multiple dysplasias, including bulbous nose, large ears, elongated and thin upper lips, sparse hair, redundant skin and mental retardation. Mental retardation associated with Langer-Giedon syndrome may possibly be mild. Prevalence of this syndrome varies between 1/20.000 to 1/50.000 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 >99% of all cases.
This technique is superior to FISH, due to its enhanced analytical sensitivity and reliability.