PMID- 10204841
OWN - NLM
STAT- MEDLINE
DCOM- 19990611
LR  - 20181113
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 3
DP  - 1999 Mar
TI  - Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
PG  - 183-6
AB  - We report on the evaluation of a strategy for screening for XNP/ATR-X mutations
      in males with mental retardation and associated dysmorphology. Because nearly
      half of the mutations in this gene reported to date fall into a short 300 bp
      region of the transcript, we decided to focus in this region and to extend the
      mutation analysis to cases with a negative family history. This study includes 21
      mentally retarded male patients selected because they had severe mental
      retardation and a typical facial appearance. The presence of haemoglobin H or
      urogenital abnormalities was not considered critical for inclusion in this study.
      We have identified six mutations which represents a mutation detection rate of
      28%. This figure is high enough for us to propose this strategy as a valid first 
      level of screening in a selected subset of males with mental retardation. This
      approach is simple, does not require RNA preparation, does not involve time
      consuming mutation detection methods, and can thus be applied to a large number
      of patients at a low cost in any given laboratory.
FAU - Villard, L
AU  - Villard L
AD  - INSERM U491, Faculte de Medecine La Timone, Universite de la Mediterranee,
      Marseille, France.
FAU - Bonino, M C
AU  - Bonino MC
FAU - Abidi, F
AU  - Abidi F
FAU - Ragusa, A
AU  - Ragusa A
FAU - Belougne, J
AU  - Belougne J
FAU - Lossi, A M
AU  - Lossi AM
FAU - Seaver, L
AU  - Seaver L
FAU - Bonnefont, J P
AU  - Bonnefont JP
FAU - Romano, C
AU  - Romano C
FAU - Fichera, M
AU  - Fichera M
FAU - Lacombe, D
AU  - Lacombe D
FAU - Hanauer, A
AU  - Hanauer A
FAU - Philip, N
AU  - Philip N
FAU - Schwartz, C
AU  - Schwartz C
FAU - Fontes, M
AU  - Fontes M
LA  - eng
GR  - 2RQ1HD26202/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Nuclear Proteins)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - EC 3.6.4.12 (ATRX protein, human)
RN  - EC 3.6.4.12 (X-linked Nuclear Protein)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Sequence
MH  - Child
MH  - Child, Preschool
MH  - DNA Helicases/*genetics
MH  - Evaluation Studies as Topic
MH  - Genetic Testing/methods
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Intellectual Disability/enzymology/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Nuclear Proteins/*genetics
MH  - Syndrome
MH  - *X Chromosome
MH  - X-linked Nuclear Protein
MH  - *Zinc Fingers
MH  - alpha-Thalassemia/enzymology/*genetics
PMC - PMC1734331
EDAT- 1999/04/16 00:00
MHDA- 1999/04/16 00:01
CRDT- 1999/04/16 00:00
PHST- 1999/04/16 00:00 [pubmed]
PHST- 1999/04/16 00:01 [medline]
PHST- 1999/04/16 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Mar;36(3):183-6.