PMID- 10660327
OWN - NLM
STAT- MEDLINE
DCOM- 20000201
LR  - 20171116
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype
      relationship in ATR/X syndrome. Mutations in brief no. 176. Online.
PG  - 214
AB  - The molecular causes of ATR-X syndrome reside in mutations involving the
      XNP/ATR-X gene, which maps in the Xq13.3 region. Mutational analysis of this gene
      in two unrelated affected patients allowed us to identify two new molecular
      defects in two distinct regions of the gene. The first is a A-->G splice mutation
      in the acceptor site of the intron 11 that removes most of the 3' part of the
      protein, including the helicase domains and the glutamic acid stretch. Three
      cryptic acceptor splice sites are activated by this point mutation with
      consequent production of three types of abnormal mRNA: two with intronic
      insertions and a smaller one, approximately 10% of the total transcript, which is
      shorter than normal mRNA by one amino acid residue (E). Since the
      physiopathological characteristics of the patient carrying the splice mutation do
      not exhibit severe urogential abnormalities despite the lack of the -COOH end of 
      the protein, a residual function of this third transcript is to be suspected. The
      second encountered nucleotide change (G-->T) leads to an R246L amino acid
      substitution in the putative zinc finger DNA-binding domain in the -NH2 terminal 
      part of the protein.
FAU - Fichera, M
AU  - Fichera M
AD  - Laboratorio di Patologia Genetica, I.R.C.C.S., Oasi Maria SS, Troina, Italy.
      Mutations in brief no. 176. Online.
FAU - Romano, C
AU  - Romano C
FAU - Castiglia, L
AU  - Castiglia L
FAU - Failla, P
AU  - Failla P
FAU - Ruberto, C
AU  - Ruberto C
FAU - Amata, S
AU  - Amata S
FAU - Greco, D
AU  - Greco D
FAU - Cardoso, C
AU  - Cardoso C
FAU - Fontes, M
AU  - Fontes M
FAU - Ragusa, A
AU  - Ragusa A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Transcription Factors)
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  - *DNA Helicases
MH  - DNA-Binding Proteins/*genetics
MH  - Genotype
MH  - Humans
MH  - Mutation/*genetics
MH  - Nuclear Proteins/*genetics
MH  - Phenotype
MH  - Syndrome
MH  - Transcription Factors/*genetics
MH  - X Chromosome/genetics
MH  - X-linked Nuclear Protein
MH  - alpha-Thalassemia/*genetics
EDAT- 2000/02/05 00:00
MHDA- 2000/02/05 00:01
CRDT- 2000/02/05 00:00
PHST- 2000/02/05 00:00 [pubmed]
PHST- 2000/02/05 00:01 [medline]
PHST- 2000/02/05 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):214.