PMID- 22642246
OWN - NLM
STAT- MEDLINE
DCOM- 20121107
LR  - 20130515
IS  - 1735-3947 (Electronic)
IS  - 1029-2977 (Linking)
VI  - 15
IP  - 6
DP  - 2012 Jun
TI  - Mutational screening of ARX gene in Iranian families with X-linked intellectual 
      disability.
PG  - 361-5
AB  - BACKGROUND: Mutations in the human aristaless-related homeobox (ARX) gene are 
      amongst the major causes of developmental and neurological disorders. They are 
      responsible for a wide spectrum of phenotypes, including nonsyndromic X-linked 
      intellectual disability (NS-XLID), and syndromic (XLIDS) forms such as X-linked 
      lissencephaly with abnormal genitalia (XLAG), Partington syndrome (PRTS), and 
      X-linked infantile spasm syndrome (ISSX). The recurrent 24 bp duplication 
      mutation, c.428_451dup(24 bp), is the most frequent ARX mutation, which accounts 
      for ~40% of all cases reported to date. METHODS: We have screened the entire 
      coding sequences of the ARX gene in 65 Iranian families with intellectual 
      disabilities in order to obtain the relative prevalence of ARX mutations. At 
      first these families were screened for the most recurrent mutation, the 
      c.428_451dup(24 bp). For samples with negative results, single strand 
      conformation polymorphism (SSCP) analysis was performed. RESULTS: We identified 
      one family with the c.428_451dup(24 bp) duplication. Three shifts (one shift in 
      exon 5 and two shifts in exon 4) were also identified among the total families. 
      According to the results of the sequencing analysis, two shifts were not 
      associated with any mutation and the other one was a c.1347C>T (p.G449G) 
      substitution in exon 4. CONCLUSION: Hence, we suggest that molecular analysis of 
      ARX mutations as a second cause of XLID should be considered as routine 
      diagnostic procedure in any male who presents with either NS-XLID or XLIDS.
FAU - Abedini, Seyed Sedigheh
AU  - Abedini SS
AD  - Genetics Research Center, University of Social Welfare and Rehabilitation 
      Sciences, Tehran, Iran. hnajm12@yahoo.com
FAU - Kahrizi, Kimia
AU  - Kahrizi K
FAU - Behjati, Farkhondeh
AU  - Behjati F
FAU - Banihashemi, Sussan
AU  - Banihashemi S
FAU - Ghasemi Firoozabadi, Saghar
AU  - Ghasemi Firoozabadi S
FAU - Najmabadi, Hossein
AU  - Najmabadi H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Iran
TA  - Arch Iran Med
JT  - Archives of Iranian medicine
JID - 100889644
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Genes, Homeobox
MH  - Genes, X-Linked
MH  - Genetic Testing
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Intellectual Disability/*epidemiology/*genetics
MH  - Iran/epidemiology
MH  - Male
MH  - *Mutation
MH  - Prevalence
MH  - Transcription Factors/*genetics
EDAT- 2012/05/31 06:00
MHDA- 2012/11/08 06:00
CRDT- 2012/05/31 06:00
PHST- 2012/05/31 06:00 [entrez]
PHST- 2012/05/31 06:00 [pubmed]
PHST- 2012/11/08 06:00 [medline]
AID - 009 [pii]
PST - ppublish
SO  - Arch Iran Med. 2012 Jun;15(6):361-5.