PMID- 12900578
OWN - NLM
STAT- MEDLINE
DCOM- 20040121
LR  - 20171101
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 99
IP  - 1-4
DP  - 2002
TI  - Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic 
      paracentric inversion of Xp.
PG  - 297-302
AB  - The microphthalmia with linear skin defects syndrome (MLS) is an X-linked 
      dominant disorder with male lethality. In the majority of the patients reported, 
      the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, 
      five male patients with MLS and 46,XX karyotype ("XX males") have been described. 
      Here we report on the first male case with MLS and an XY complement. The patient 
      showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic 
      acidosis but no microphthalmia, and carried a mosaic subtle inversion of the 
      short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 
      46,Y,inv(X)(p22.13 approximately 22.2p22.32 approximately 22.33)[49]/46,XY[271]. 
      By fluorescence IN SITU hybridization (FISH), we showed that YAC 225H10 spans the 
      breakpoint in Xp22.3. End-sequencing and database analysis revealed a YAC insert 
      of at least 416 kb containing the genes HCCS and AMELX, and exons 2-16 of 
      ARHGAP6. Molecular cytogenetic data suggest that the Xp22.3 inversion breakpoint 
      is located in intron 1 of ARHGAP6, the gene encoding the Rho GTPase activating 
      protein 6. Future molecular studies in karyotypically normal female MLS patients 
      to detect submicroscopic rearrangements including the ARHGAP6 gene as well as 
      mutation screening of ARHGAP6 in patients with no obvious chromosomal 
      rearrangements will clarify the role of this gene in MLS syndrome.
CI  - Copyright 2002 S. Karger AG, Basel
FAU - Kutsche, K
AU  - Kutsche K
AD  - Institut fur Humangenetik, Universitatsklinikum Hamburg-Eppendorf, Hamburg, 
      Germany. kkutsche@uke.uni-hamburg.de
FAU - Werner, W
AU  - Werner W
FAU - Bartsch, O
AU  - Bartsch O
FAU - von der Wense, A
AU  - von der Wense A
FAU - Meinecke, P
AU  - Meinecke P
FAU - Gal, A
AU  - Gal A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (ARHGAP6 protein, human)
RN  - 0 (GTPase-Activating Proteins)
SB  - IM
MH  - *Chromosome Inversion
MH  - Chromosomes, Human, X/*genetics
MH  - Fatal Outcome
MH  - GTPase-Activating Proteins/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Microphthalmos/*genetics/pathology
MH  - Mosaicism
MH  - Sex Chromosome Aberrations
MH  - *Skin Abnormalities
MH  - Syndrome
EDAT- 2003/08/06 05:00
MHDA- 2004/01/22 05:00
CRDT- 2003/08/06 05:00
PHST- 2002/10/30 00:00 [received]
PHST- 2002/12/20 00:00 [accepted]
PHST- 2003/08/06 05:00 [pubmed]
PHST- 2004/01/22 05:00 [medline]
PHST- 2003/08/06 05:00 [entrez]
AID - 71607 [pii]
AID - 10.1159/000071607 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2002;99(1-4):297-302. doi: 10.1159/000071607.