PMID- 10234513
OWN - NLM
STAT- MEDLINE
DCOM- 19990628
LR  - 20101118
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 3
DP  - 1999 Apr
TI  - A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at
      p23-24.2.
PG  - 363-7
AB  - Usher type II syndrome is defined by the association of retinitis pigmentosa,
      appearing in the late second to early third decade of life, with congenital
      moderate to severe non-progressive hearing loss. This double sensory impairment
      is not accompanied by vestibular dysfunction. To date, only one Usher type II
      locus, USH2A, at chromosome band 1q41, has been defined. Here, we demonstrate by 
      linkage analysis, that the gene responsible for Usher type II syndrome in a
      Tunisian consanguineous family maps to chromosome 3 at position p23-24.2, thus
      providing definitive evidence for the genetic heterogeneity of the syndrome. A
      maximum lod score of 4.3 was obtained with the polymorphic microsatellite markers
      corresponding to loci D3S1578, D3S3647 and D3S3658. This maps the gene underlying
      USH2B to a chromosomal region which overlaps the interval defined for the
      non-syndromic sensorineural recessive deafness DFNB6, raising the possibility
      that a single gene underlies both defects. However, the audiometric features in
      the patients affected by USH2B and DFNB6 are very different.
FAU - Hmani, M
AU  - Hmani M
AD  - Laboratoire d'Immunologie et de Biologie Moleculaire, Faculte de Medecine, Sfax, 
      Tunisia.
FAU - Ghorbel, A
AU  - Ghorbel A
FAU - Boulila-Elgaied, A
AU  - Boulila-Elgaied A
FAU - Ben Zina, Z
AU  - Ben Zina Z
FAU - Kammoun, W
AU  - Kammoun W
FAU - Drira, M
AU  - Drira M
FAU - Chaabouni, M
AU  - Chaabouni M
FAU - Petit, C
AU  - Petit C
FAU - Ayadi, H
AU  - Ayadi 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
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 3
MH  - Female
MH  - Genetic Linkage
MH  - Hearing Loss, Sensorineural/congenital/*genetics/physiopathology
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Retinitis Pigmentosa/*genetics/physiopathology
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200307 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Apr;7(3):363-7. doi: 10.1038/sj.ejhg.5200307.