PMID- 16059943
OWN - NLM
STAT- MEDLINE
DCOM- 20051017
LR  - 20220316
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 137
IP  - 2
DP  - 2005 Aug 30
TI  - Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, 
      and molecular characterization of 11 cases.
PG  - 190-8
AB  - The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a 
      severe and rare developmental disorder, which is inherited as an X-linked 
      dominant trait with male lethality. In the vast majority of patients, this 
      syndrome is associated with terminal deletion of the Xp22.3 region. Thirty-five 
      cases have been described to date in the literature since the first description 
      of the syndrome in the early 1990s. We now report on the clinical, cytogenetic, 
      and molecular characterization of 11 patients, 7 of whom have not been described 
      previously. Seven of these patients have chromosomal abnormalities of the short 
      arm of the X-chromosome, which were characterized and defined by fluorescence in 
      situ hybridization (FISH) analysis. Intriguingly, one of the patients displays an 
      interstitial Xp22.3 deletion, which to the best of our knowledge is the first 
      reported for this condition. Finally we report on the identification and 
      molecular characterization of four cases with clinical features of MLS but 
      apparently normal karyotypes, verified by FISH analysis using genomic clones 
      spanning the MLS minimal critical region, and with genome-wide analysis using a 1 
      Mb resolution BAC microarray. These patients made it possible to undertake 
      mutation screening of candidate genes and may prove critical for the 
      identification of the gene responsible for this challenging and intriguing 
      genetic disease.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Morleo, Manuela
AU  - Morleo M
AD  - Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 
      80131 Naples, Italy.
FAU - Pramparo, Tiziano
AU  - Pramparo T
FAU - Perone, Lucia
AU  - Perone L
FAU - Gregato, Giuliana
AU  - Gregato G
FAU - Le Caignec, Cedric
AU  - Le Caignec C
FAU - Mueller, Robert F
AU  - Mueller RF
FAU - Ogata, Tsutomu
AU  - Ogata T
FAU - Raas-Rothschild, Annick
AU  - Raas-Rothschild A
FAU - de Blois, Marie Christine
AU  - de Blois MC
FAU - Wilson, Louise C
AU  - Wilson LC
FAU - Zaidman, Gerald
AU  - Zaidman G
FAU - Zuffardi, Orsetta
AU  - Zuffardi O
FAU - Ballabio, Andrea
AU  - Ballabio A
FAU - Franco, Brunella
AU  - Franco B
LA  - eng
GR  - TGM03S01/TI_/Telethon/Italy
GR  - TGM06S01/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, X/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Microphthalmos/*pathology
MH  - Physical Chromosome Mapping/methods
MH  - *Skin Abnormalities
MH  - Syndrome
EDAT- 2005/08/02 09:00
MHDA- 2005/10/18 09:00
CRDT- 2005/08/02 09:00
PHST- 2005/08/02 09:00 [pubmed]
PHST- 2005/10/18 09:00 [medline]
PHST- 2005/08/02 09:00 [entrez]
AID - 10.1002/ajmg.a.30864 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864.