Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

Lynex, Clare N; Carr, Ian M; Leek, Jack P; Achuthan, Rajgopal; Mitchell, Simon; Maher, Eamonn R; Woods, C Geoffrey; Bonthon, David T; Markham, Alex F

doi:10.1186/1471-2377-4-20

Table 3 Autozygosity mapping data generated by genotyping eight members of the two autosomal recessive spastic CP families. Subjects 4718, 4719, 4720 and 4722 represent family A; subjects 4578, 4579, 4581 and 4679 represent family B as demonstrated in Figure 2. This Table is organised according to the definitive marker order determined from current databases and the physical contig mapping undertaken. The minimum homozygous region is highlighted. **Denotes an unaffected family member*.

From: Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

Marker	Base position	4718	4719	4722*	4720*	4578	4579	4581	4679
D2S2157 AFMA119YH5	166029867	145	145	145/147	145	145/147	145/147	145/147	145/147
D2S124 AFM094ZC9	166347755	160	160	160	160	160/163	160/163	160/163	160/163
D2S2330 AFMC015YD9	166900134	156	156	156/158	156/158	160/168	160/168	160/168	160/168
CHLC.GATA71B02	167624503	240/256	240/256	240/256	240/256	240/256	240/256	240/256	240/256
D2S2345 AFM080XG9	168922932	156	156	150/156	150/156	152	152	152	152
CHLC.GATA71D01	169848018	193	193	193	193	193	193	193	193
D2S294 AFM205XF12	170579380	186	186	186	186	208	208	208	208
AFMA109YC1	171576976	256	256	254/256	256	254	254	254	254
D2S376 AFM319XG1	171576985	235	235	235	235	235	235	235	235
D2S2284 AFMB314YE1	171696071	166	166	166	166	166	166	166	166
D2S2177 AFMA155TF9	171790203	118	118	118	118	128	128	128	128
D2S2194 AFMA222XB9	171884139	141	141	141	141/143	145	145	145	145
D2S333 AFM2702E9	172592103	189	189	189/191	189/191	189	189	189	189
D2S2302 AFMB342ZD9	172758604	204	204	199/204	199/204	204	204	204	204
D2S2381 AFMA082TF5	172861090	222	222	226	222/226	224	224	224	224
D2S326 AFM266VE1	173299492	92	92	92	92	92	92	92	92
AFMA304WB1	176057526	130/132	122/132	130/132	122/132	124	124	124	124
D2S138 AFM176XD4	177947395	108	108	113	108/113	111/117	111	111	111
D2S148 AFM200WA11	178434054	184/188	184/188	184/194	184/194	188/190	186	186	186
D2S300 AFM214XC3	178826338	87/89	87/89	87/89	87/89	87/89	89	89	89

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ISSN: 1471-2377

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