TY - JOUR
T1 - Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2
AU - Tamagaki, Ayako
AU - Shima, Midori
AU - Tomita, Reiko
AU - Okumura, Motoaki
AU - Shibata, Masaru
AU - Morichika, Syogo
AU - Kurahashi, Hiroki
AU - Giddings, John C.
AU - Yoshioka, Akira
AU - Yokobayashi, Yoshihiro
PY - 2000/9/4
Y1 - 2000/9/4
N2 - A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and α-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder. (C) 2000 Wiley-Liss, Inc.
AB - A 3-year-old boy, his 7-year-old brother, and a maternal uncle had a pure form of spastic paraplegia and a variant X chromosome with a faintly stained gap at Xq11.2. The mother of the propositus also had the variant X chromosome but was clinically unaffected. Three other unaffected females in the family did not have the variant X chromosome. The gaps in the variant X chromosome from the affected members and the mother were Ag-NOR staining positive, C-banding negative, rDNA FISH analysis positive, and α-satellite FISH analysis negative. The gap, therefore, represented an insertion of the nucleolus organizer region (NOR) derived from the short arm of an acrocentric chromosome. The variant X chromosome of the mother was randomly inactivated, as evidenced by BrdU replication analysis of her Epstein-Barr virus-transformed lymphoblastoid cells. Because mutations of the proteolipid protein gene at Xq21 have been responsible for a pure form of spastic paraplegia, this was also investigated but found to be negative in all affected relatives. Summing up these findings, it is proposed that the NOR insertion in the affected members of the family disrupted a hitherto unknown gene for a pure form of spastic paraplegia, situated at Xq11.2, and caused the disorder. (C) 2000 Wiley-Liss, Inc.
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U2 - 10.1002/1096-8628(20000904)94:1<5::AID-AJMG2>3.0.CO;2-O
DO - 10.1002/1096-8628(20000904)94:1<5::AID-AJMG2>3.0.CO;2-O
M3 - Article
C2 - 10982474
AN - SCOPUS:0034605365
SN - 0148-7299
VL - 94
SP - 5
EP - 8
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -