PMID- 10482956
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20071115
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 6
DP  - 1999 Sep
TI  - Molecular analysis of cystinosis: probable Irish origin of the most common French
      Canadian mutation.
PG  - 671-8
AB  - Infantile nephropathic cystinosis, an autosomal recessive disease characterized
      by a lysosomal accumulation of cystine, presents as failure to thrive, rickets
      and proximal renal tubular acidosis. The cystinosis gene, CTNS, which maps to
      chromosome 17p13, encodes a predicted 55 kDa protein with characteristics of a
      lysosomal membrane protein. We have conducted extensive linkage analysis in a
      French Canadian cystinosis cohort identifying a founding haplotype present in
      approximately half (21/40) of the chromosomes studied. Subsequent mutational
      analysis, in addition to identifying two novel mutations, has unexpectedly
      revealed a mutation which has been previously found in Irish (but not French)
      cystinotic families on these 21 French Canadian chromosomes. Haplotype analysis
      of two Irish families with this mutation supports the hypothesis that Celtic
      chromosomes represent an extensive portion of cystinosis chromosomes in French
      Canada. Our analysis underlines the genetic heterogeneity of the French Canadian 
      population, reflecting a frequently unrecognized contribution from non-Gallic
      sources including the Irish.
FAU - McGowan-Jordan, J
AU  - McGowan-Jordan J
AD  - Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
FAU - Stoddard, K
AU  - Stoddard K
FAU - Podolsky, L
AU  - Podolsky L
FAU - Orrbine, E
AU  - Orrbine E
FAU - McLaine, P
AU  - McLaine P
FAU - Town, M
AU  - Town M
FAU - Goodyer, P
AU  - Goodyer P
FAU - MacKenzie, A
AU  - MacKenzie A
FAU - Heick, H
AU  - Heick H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Amino Acid Transport Systems, Neutral)
RN  - 0 (CTNS protein, human)
RN  - 0 (Genetic Markers)
RN  - 0 (Glycoproteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Membrane Transport Proteins)
SB  - IM
MH  - Amino Acid Transport Systems, Neutral
MH  - Canada/ethnology
MH  - Chromosomes, Human, Pair 7
MH  - Cystinosis/ethnology/*genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Female
MH  - Founder Effect
MH  - Gene Deletion
MH  - Genetic Markers
MH  - *Glycoproteins
MH  - Haplotypes
MH  - Humans
MH  - Ireland/ethnology
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Membrane Transport Proteins
MH  - Models, Genetic
MH  - *Mutation
MH  - Pedigree
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/09/14 00:00
MHDA- 1999/09/14 00:01
CRDT- 1999/09/14 00:00
PHST- 1999/09/14 00:00 [pubmed]
PHST- 1999/09/14 00:01 [medline]
PHST- 1999/09/14 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200349 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Sep;7(6):671-8. doi: 10.1038/sj.ejhg.5200349.