PMID- 15850492
OWN - NLM
STAT- MEDLINE
DCOM- 20050607
LR  - 20181113
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 6
DP  - 2005 Apr 25
TI  - XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX 
      (Aristaless related homeobox) gene.
PG  - 16
AB  - BACKGROUND: X-linked mental retardation (XLMR) is the leading cause of mental 
      retardation in males. Mutations in the ARX gene in Xp22.1 have been found in 
      numerous families with both nonsyndromic and syndromic XLMR. The most frequent 
      mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a 
      panel of XLMR families linked to Xp22 was tested for this particular ARX 
      mutation. METHODS: Genomic DNA from XLMR families linked to Xp22.1 was amplified 
      for exon 2 in ARX using a Cy5 labeled primer pair. The resulting amplicons were 
      sized using the ALFexpress automated sequencer. RESULTS: A panel of 11 families 
      with X-linked mental retardation was screened for the ARX 24dup mutation. Four 
      nonsyndromic XLMR families - MRX29, MRX32, MRX33 and MRX38 - were found to have 
      this particular gene mutation. CONCLUSION: We have identified 4 additional XLMR 
      families with the ARX dup24 mutation from a panel of 11 XLMR families linked to 
      Xp22.1. This finding makes the ARX dup24 mutation the most common mutation in 
      nonsyndromic XLMR families linked to Xp22.1. As this mutation can be readily 
      tested for using an automated sequencer, screening should be considered for any 
      male with nonsyndromic MR of unknown etiology.
FAU - Stepp, Monica L
AU  - Stepp ML
AD  - J.C. Self Research Institute, Genetic Center, Greenwood, S.C. USA. 
      mdlindsey@ggc.org
FAU - Cason, A Lauren
AU  - Cason AL
FAU - Finnis, Merran
AU  - Finnis M
FAU - Mangelsdorf, Marie
AU  - Mangelsdorf M
FAU - Holinski-Feder, Elke
AU  - Holinski-Feder E
FAU - Macgregor, David
AU  - Macgregor D
FAU - MacMillan, Andree
AU  - MacMillan A
FAU - Holden, Jeanette J A
AU  - Holden JJ
FAU - Gecz, Jozef
AU  - Gecz J
FAU - Stevenson, Roger E
AU  - Stevenson RE
FAU - Schwartz, Charles E
AU  - Schwartz CE
LA  - eng
GR  - R01 HD026202/HD/NICHD NIH HHS/United States
GR  - HD26202/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20050425
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Chromosomes, Human, X/genetics
MH  - Female
MH  - *Gene Duplication
MH  - Genetic Carrier Screening
MH  - Genetic Testing
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Mental Retardation, X-Linked/*genetics
MH  - Mutation/*genetics
MH  - Transcription Factors/*genetics
PMC - PMC1142315
EDAT- 2005/04/27 09:00
MHDA- 2005/06/09 09:00
PMCR- 2005/04/25
CRDT- 2005/04/27 09:00
PHST- 2004/11/29 00:00 [received]
PHST- 2005/04/25 00:00 [accepted]
PHST- 2005/04/27 09:00 [pubmed]
PHST- 2005/06/09 09:00 [medline]
PHST- 2005/04/27 09:00 [entrez]
PHST- 2005/04/25 00:00 [pmc-release]
AID - 1471-2350-6-16 [pii]
AID - 10.1186/1471-2350-6-16 [doi]
PST - epublish
SO  - BMC Med Genet. 2005 Apr 25;6:16. doi: 10.1186/1471-2350-6-16.