PMID- 10464653
OWN - NLM
STAT- MEDLINE
DCOM- 19991012
LR  - 20091119
IS  - 1090-6576 (Print)
IS  - 1090-6576 (Linking)
VI  - 1
IP  - 4
DP  - 1997-1998
TI  - Branchio-oto-renal syndrome: identification of novel mutations, molecular
      characterization, mutation distribution, and prospects for genetic testing.
PG  - 243-51
AB  - The branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder
      characterized by branchial clefts, preauricular sinuses, hearing loss, and renal 
      anomalies. The BOR gene, EYA1, on chromosome 8q13 has recently been cloned and
      mutations have been identified. In this study, we have analyzed the sites of
      mutations in the EYA1 gene in BOR patients to determine the spectrum of
      mutations. We have identified two missense mutations and have compared all the
      mutations reported to date in the EYA1 gene. In total, 20 mutations have been
      described, the majority of which are clustered in the carboxy-terminal region of 
      the gene. The clinical features of the BOR individuals have also been compared to
      determine if the nature of the mutation correlates with the type and severity of 
      the clinical symptoms. Most of the mutations arose de novo and, other than the
      clustering in carboxy-terminal exons 9-16, no mutation hot spots have been
      identified. These results provide the basis for molecular genetic testing that
      will help in the clinical evaluation and genetic counseling of members of BOR
      families.
FAU - Kumar, S
AU  - Kumar S
AD  - Department of Genetics, Boys Town National Research Hospital, Omaha, NE 68131,
      USA.
FAU - Deffenbacher, K
AU  - Deffenbacher K
FAU - Cremers, C W
AU  - Cremers CW
FAU - Van Camp, G
AU  - Van Camp G
FAU - Kimberling, W J
AU  - Kimberling WJ
LA  - eng
GR  - P01 DCO1813/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Test
JT  - Genetic testing
JID - 9802546
RN  - 0 (DNA Primers)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Trans-Activators)
RN  - EC 3.1.3.48 (EYA1 protein, human)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatases)
SB  - IM
MH  - Base Sequence
MH  - Branchio-Oto-Renal Syndrome/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - DNA Primers
MH  - Female
MH  - *Genes, Dominant
MH  - Genetic Heterogeneity
MH  - *Genetic Testing
MH  - Genotype
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Nuclear Proteins
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Protein Tyrosine Phosphatases
MH  - Trans-Activators/*genetics
EDAT- 1997/01/01 00:00
MHDA- 1999/08/28 00:01
CRDT- 1997/01/01 00:00
PHST- 1997/01/01 00:00 [pubmed]
PHST- 1999/08/28 00:01 [medline]
PHST- 1997/01/01 00:00 [entrez]
AID - 10.1089/gte.1997.1.243 [doi]
PST - ppublish
SO  - Genet Test. 1997-1998;1(4):243-51. doi: 10.1089/gte.1997.1.243.