Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

[krabbe disease]

Krabbe disease (OMIM #245200 ) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC ) activity . We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease : one insertion mutation , c .1836 _1837 insT , and one nonsense mutation , c .599 C >A (p .S 200 X ), in an infantile patient , and one deletion mutation , c .1911 +1 _1911 +5 delGTAAG , and one missense mutation , c .2041 G >A , in an adult late-onset patient . This is the first identification of GALC mutations in the Chinese population .