1992 Fiscal Year Final Research Report Summary
Molecular cytogenetic study of Kabuki make-up syndrome
| Project/Area Number |
03454500
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | Yamaguchi University School of Medicine |
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Principal Investigator |
KAJII Tadashi Dept.Pediatrics Yamaguchi Univ. School of Medicine, Professor, 医学部, 教授 (40116710)
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| Co-Investigator(Kenkyū-buntansha) |
KUWANO Akira Dept.Pediatrics Yamaguchi Univ. School of Medicine, Assistant, 医学部, 助手 (30205265)
MURANO Ichiro Dept.Pediatrics Yamaguchi Univ. School of Medicine, Assistant, 医学部・付属病院, 助手 (20200305)
TSUKUHARA Masato Dept.Pediatrics Yamaguchi Univ. School of Medicine, Lecturer, 医学部, 講師 (20136188)
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| Project Period (FY) |
1991 – 1992
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| Keywords | Turner syndrome / Kabuki make-up syndrome / ring X / ring Y / X inactivation / XIST |
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| Research Abstract |
1) A total of 12 patients with Kabuki make-up-Turner syndrome was studied : 7 patients were with typical manifestations of the Kabuki make-up syndrome, whilst the other 5 patients showed atypical manifestations. The 7 patients included 6 cases of 45, X/46, X,small r(X or Y) and a case of 46, X,Xp-. The other 5 patients included 2 cases of 45, X/46, X,i(X) and one case each of 45, X ; 45, X/46, X,i(X)/47, X,(X), (X), and 45, X/46, X,large r(X).
2) Centromeric FISH studies indicated 4 ring chromosomes to be of X chromosomal origin, whereas one was Y chromosomal. XIST expression as studied with RT-PCR was positive in 3 of 3 ring Xs studied. BrdU replication studies in small ring Xs were inconclusive.
In view of these findings, patients with small ring (X or Y) are likely to manifest the clinical features of the Kabuki make-up syndrome. Their ring Xs are inactivated in at least a portion of their cells. This, however, dose not exclude the possibility that the small ring Xs remain active in a portion of cells to be responsible for the phenotype.
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