PMID- 11484209
OWN - NLM
STAT- MEDLINE
DCOM- 20010913
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 3
DP  - 2001 Aug 15
TI  - Kabuki syndrome-like features associated with a small ring chromosome X and XIST 
      gene expression.
PG  - 286-92
AB  - Although clinical features in Kabuki syndrome (KS; Niikawa-Kuroki syndrome) have 
      been well defined, the underlying genetic mechanism still remains unclear. We 
      report a 9-year-old girl with typical KS-like facial appearance, skeletal and 
      dermatoglyphic abnormalities, severe mental retardation, and growth deficiency. 
      In 60 of 100 GTG-banded metaphases from peripheral blood lymphocytes, a ring 
      chromosome smaller than a G group chromosome was found, which, according to 
      reverse painting, consisted of Xq11.1q13. The proband's karyotype was described 
      as mos45,X/46,X,+r(X). Several loci were analyzed with fluorescence in situ 
      hybridization (FISH) and microsatellite markers revealing that one r(X) 
      breakpoint mapped proximal to DXS422 (Xp11.21) and the second mapped distal to 
      XIST gene, between loci DXS128E and DXS441 (Xq13.2). Uniparental disomy for X and 
      r(X) was excluded and the paternal origin of r(X) was identified. XIST expression 
      was demonstrated by nested reverse transcription polymerase chain reaction 
      (RT-PCR) using primers spanning exons 5, 6i, and 6 in RNA prepared from 
      lymphocytes. The observation of XIST expression is in contrast to two other cases 
      in which the XIST gene was either not present on r(X) or not expressed. To our 
      knowledge, this is the first case of Kabuki-like syndrome manifestations with 
      r(X) and XIST expression.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Stankiewicz, P
AU  - Stankiewicz P
AD  - Institute of Human Genetics and Medical Biology, University Halle-Wittenberg, 
      Halle/S, Germany. pawels@bcm.tmc.edu
FAU - Thiele, H
AU  - Thiele H
FAU - Giannakudis, I
AU  - Giannakudis I
FAU - Schlicker, M
AU  - Schlicker M
FAU - Baldermann, C
AU  - Baldermann C
FAU - Kruger, A
AU  - Kruger A
FAU - Dorr, S
AU  - Dorr S
FAU - Starke, H
AU  - Starke H
FAU - Hansmann, I
AU  - Hansmann I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (RNA, Long Noncoding)
RN  - 0 (RNA, Untranslated)
RN  - 0 (Transcription Factors)
RN  - 0 (XIST non-coding RNA)
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child
MH  - Chromosome Banding
MH  - Craniofacial Abnormalities/*pathology
MH  - Cytogenetic Analysis
MH  - Female
MH  - Gene Expression
MH  - Growth Disorders/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*pathology
MH  - Microsatellite Repeats
MH  - RNA, Long Noncoding
MH  - RNA, Untranslated/*genetics
MH  - *Ring Chromosomes
MH  - Syndrome
MH  - Transcription Factors/*genetics
MH  - X Chromosome/*genetics
EDAT- 2001/08/03 10:00
MHDA- 2001/09/14 10:01
CRDT- 2001/08/03 10:00
PHST- 2001/08/03 10:00 [pubmed]
PHST- 2001/09/14 10:01 [medline]
PHST- 2001/08/03 10:00 [entrez]
AID - 10.1002/ajmg.1462 [pii]
AID - 10.1002/ajmg.1462 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Aug 15;102(3):286-92. doi: 10.1002/ajmg.1462.