Glucocerebrosidase Mutations in Gaucher Disease

Table 4 New mutations found in the present study

Patient #	cDNA Number	Genomic Number	Base Substitution	Exon	Amino Acid Number	Amino Acid Substitution	Rapid Detection Method	Other Mutation	Age at Dx/Current Age	Type	Severity Score (8)	Pvl.1.
1	203	1707	C→del	3	29	Pro→Arg^a	ASOH^d	1226G	9/34	I	19	−/−
2	644	3438	C→A	6	176	Ala→Asp	−PflMI	?	11/31	I	7	+/+
2A	—	—	—	—	—	—	—	1226G	22/38	I	4	+/−
3	661	3455	C→A	6	182	Pro→Thr	−HphI	1226G	12/47	I	8	−/−
4	721	3515	G→A^b	6	202	Gly→Arg	−NciI	1226G	19/53	I	6	−/−
4A	—	—	—	—	—	—	—	1226G	29/38	I	6	+/−
4B	—	—	—	—	—	—	—	1448C	0.5/died at 3	II	24	+/−
5	887	4236	G→A	7	257	Arg→Gln	−BsmAI	1226G	51/8	I	14	−/−
6	970	4319	C→T	7	285	Arg→Cys	(+Nsi)^c	1226G	39/20	I	10	−/−
7	1249	5864	T→G	9	378	Trp→Gly	ASOH^d	764A	20/59	I	11	+/+
8	1255	5870	G→A	9	380	Asp→Asn	(+XcmI)^c	1226G	71/40	I	8	+/−

All patients were unrelated non-Jewish individuals with Gaucher disease. Patient designations without letter represent the index case.
^aFrame shift with early termination.
^bMutation creates the sequence found in the pseudogene.
^cRestriction site created artifically by mismatching a PCR primer.
^dAllele specific oligonucleotide hybridization.

ISSN: 1528-3658