PMID- 12567408
OWN - NLM
STAT- MEDLINE
DCOM- 20030807
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 2
DP  - 2003 Mar 1
TI  - Molecular characterization of a 12q22-q24 deletion associated with congenital 
      deafness: confirmation and refinement of the DFNA25 locus.
PG  - 122-6
AB  - The DFNA25 locus for autosomal dominant nonsyndromic hereditary hearing loss has 
      been mapped to 12q21-q24 by linkage analysis. A de novo deletion in a 
      six-year-old boy with congenital hearing loss as well as mental and motor 
      retardation now provides independent confirmation of this genetic localization 
      and narrows the critical interval to 13 cM in the 12q22-q24.1 region. Mapping of 
      the deletion was performed using fluorescence in situ hybridization (FISH) 
      analysis with region-specific yeast artificial chromosome (YAC) clones. Ten YACs 
      929_e_4, 959_c_3, 746_h_7, 817_h_10, 886_a_6, 916_h_9, 969_c_12, 747_e_2, 
      812_h_12, and 959_f_8 were absent from one chromosome 12 from the patient. 
      Molecular analyses of eight polymorphic markers helped to narrow down the 
      breakpoints and demonstrated that the derivative chromosome 12 is of paternal 
      origin. Several known genes including ATP2A2, UBE3B, and VR-OAC that map in the 
      12q22-q24.1 region are included in the deletion. These results provide evidence 
      that haploinsufficiency for a gene or genes in 12q22-q24.1 is associated with 
      autosomal dominant deafness.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Petek, Erwin
AU  - Petek E
AD  - Institute of Medical Biology and Human Genetics, Karl-Franzens University of 
      Graz, Graz, Austria. petek@kfunigraz.ac.at
FAU - Windpassinger, Christian
AU  - Windpassinger C
FAU - Mach, Monika
AU  - Mach M
FAU - Rauter, Ludwig
AU  - Rauter L
FAU - Scherer, Stephen W
AU  - Scherer SW
FAU - Wagner, Klaus
AU  - Wagner K
FAU - Kroisel, Peter M
AU  - Kroisel PM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Child
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosome Mapping/methods
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Family Health
MH  - Female
MH  - Genes, Dominant/genetics
MH  - Genotype
MH  - Hearing Loss/congenital/*genetics/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microsatellite Repeats
MH  - Pedigree
EDAT- 2003/02/05 04:00
MHDA- 2003/08/09 05:00
CRDT- 2003/02/05 04:00
PHST- 2003/02/05 04:00 [pubmed]
PHST- 2003/08/09 05:00 [medline]
PHST- 2003/02/05 04:00 [entrez]
AID - 10.1002/ajmg.a.10155 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Mar 1;117A(2):122-6. doi: 10.1002/ajmg.a.10155.