PMID- 21204226
OWN - NLM
STAT- MEDLINE
DCOM- 20110517
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 1
DP  - 2011 Jan
TI  - Contractions in the second polyA tract of ARX are rare, non-pathogenic 
      polymorphisms.
PG  - 164-7
LID - 10.1002/ajmg.a.33753 [doi]
AB  - Aristaless related homeobox (ARX) is a transcription factor containing highly 
      conserved octapeptide, homeobox, acidic, and aristaless domains, as well as four 
      polyA tracts. The most frequent ARX mutation found to date in patients with 
      X-linked infantile spasms, Partington syndrome or X-linked mental retardation, is 
      a duplication of 24 bp in exon 2, resulting in the expansion of the second polyA 
      tract. Although the pathogenic role of this expansion has been well 
      characterized, the effect of contractions in the same polyA tract is still 
      debated since different reports have associated contractions to either mental 
      retardation or a normal phenotype. Here, we report two unrelated girls with 
      epilepsy and mental retardation who inherited from their unaffected parents, of 
      either sex, a deletion of 24 bp (c.441_464del), resulting in a contraction of 
      eight alanines in the second polyA tract of ARX. Segregation studies revealed the 
      c.441_464del also in two healthy relatives of one of the patients. This finding 
      supports the hypothesis that this contraction represents a rare, benign 
      polymorphism.
CI  - Copyright (c) 2010 Wiley-Liss, Inc.
FAU - Conti, Valerio
AU  - Conti V
AD  - Children's Hospital A. Meyer, University of Florence, Firenze, Italy.
FAU - Marini, Carla
AU  - Marini C
FAU - Mei, Davide
AU  - Mei D
FAU - Falchi, Melania
AU  - Falchi M
FAU - Ferrari, Anna Rita
AU  - Ferrari AR
FAU - Guerrini, Renzo
AU  - Guerrini R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101210
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (ARX protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - 24937-83-5 (Poly A)
SB  - IM
MH  - Base Sequence
MH  - Child
MH  - Epilepsy/*genetics
MH  - Female
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Poly A/*genetics
MH  - Polymorphism, Genetic/*genetics
MH  - Sequence Analysis, DNA
MH  - Sequence Deletion/*genetics
MH  - Transcription Factors/*genetics
EDAT- 2011/01/05 06:00
MHDA- 2011/05/18 06:00
CRDT- 2011/01/05 06:00
PHST- 2010/08/05 00:00 [received]
PHST- 2010/09/06 00:00 [accepted]
PHST- 2011/01/05 06:00 [entrez]
PHST- 2011/01/05 06:00 [pubmed]
PHST- 2011/05/18 06:00 [medline]
AID - 10.1002/ajmg.a.33753 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Jan;155A(1):164-7. doi: 10.1002/ajmg.a.33753. Epub 2010 
      Dec 10.