PMID- 10394933
OWN - NLM
STAT- MEDLINE
DCOM- 19990723
LR  - 20191210
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 5
DP  - 1999 May
TI  - Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.
PG  - 410-1
AB  - Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital
      cataracts, microphthalmia and/or microcornea, unusual dental morphology,
      dysmorphic facial features, and developmental delay in some cases. Recent linkage
      studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between
      DXS1053 and DXS443. We previously identified a human homologue of a mouse
      retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and
      have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected
      families. Direct sequencing of the RAI2 gene and predicted promoter region has
      revealed no mutations in the families screened; RAI2 is therefore unlikely to be 
      associated with NHS.
FAU - Walpole, S M
AU  - Walpole SM
AD  - Department of Medical Genetics, Cambridge Institute for Medical Research,
      University of Cambridge, Addenbrooke's Hospital, United Kingdom.
FAU - Ronce, N
AU  - Ronce N
FAU - Grayson, C
AU  - Grayson C
FAU - Dessay, B
AU  - Dessay B
FAU - Yates, J R
AU  - Yates JR
FAU - Trump, D
AU  - Trump D
FAU - Toutain, A
AU  - Toutain A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (Proteins)
RN  - 0 (RAI2 protein, human)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Animals
MH  - Base Sequence
MH  - Cataract/congenital/genetics
MH  - Chromosome Mapping
MH  - Cornea/abnormalities
MH  - DNA/blood
MH  - Face/abnormalities
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Intercellular Signaling Peptides and Proteins
MH  - Lymphocytes/pathology
MH  - Mice
MH  - Microphthalmos/genetics
MH  - Promoter Regions, Genetic
MH  - Proteins/*genetics
MH  - Syndrome
MH  - *X Chromosome
EDAT- 1999/07/08 00:00
MHDA- 1999/07/08 00:01
CRDT- 1999/07/08 00:00
PHST- 1999/07/08 00:00 [pubmed]
PHST- 1999/07/08 00:01 [medline]
PHST- 1999/07/08 00:00 [entrez]
AID - 10.1007/s004390050976 [doi]
PST - ppublish
SO  - Hum Genet. 1999 May;104(5):410-1. doi: 10.1007/s004390050976.