PMID- 10655545
OWN - NLM
STAT- MEDLINE
DCOM- 20000504
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 9
IP  - 3
DP  - 2000 Feb 12
TI  - Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected
      in patients with congenital cataracts and ocular anterior segment anomalies.
PG  - 363-6
AB  - The Drosophila eyes absent gene ( eya ) is involved in the formation of compound 
      eyes. Flies with loss-of-function mutations of this gene develop no eyes and form
      the ectopic eye in the antennae and the ventral zone of the head on target
      expression. A highly conserved homo-logous gene in various invertebrates and
      vertebrates has been shown to function in the formation of the eye. In contrast, 
      a human homologue, EYA1, has been identified by positional cloning as a candidate
      gene for branchio-oto-renal (BOR) syndrome, in which phenotypic manifestations
      are restricted to the areas of branchial arch, ear and kidney, with usually no
      anomalies in the eye. We have examined genomic DNA isolated from patients with
      various types of developmental eye anomaly for EYA1 mutations by the use of
      polymerase chain reaction-single-strand conformation polymorphism and sequencing.
      We identified three novel missense mutations in patients who had con-genital
      cataracts and ocular anterior segment anomalies. One of the patients had clinical
      features of BOR syndrome as well. This result implies that the human EYA1 gene is
      also involved in eye morphogenesis, and that a wide variety of clinical
      manifestations may be caused by EYA1 mutations.
FAU - Azuma, N
AU  - Azuma N
AD  - Department of Ophthalmology, National Children's Hospital, 3-35-31, Taishido,
      Setagaya-ku, Tokyo 154-8509, Japan. nazuma@nch.go.jp
FAU - Hirakiyama, A
AU  - Hirakiyama A
FAU - Inoue, T
AU  - Inoue T
FAU - Asaka, A
AU  - Asaka A
FAU - Yamada, M
AU  - Yamada M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
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  - Adult
MH  - Branchio-Oto-Renal Syndrome/*genetics
MH  - Cataract/*congenital
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Eye Abnormalities/*genetics
MH  - Female
MH  - Humans
MH  - Intracellular Signaling Peptides and Proteins
MH  - Male
MH  - Mutation, Missense
MH  - Nuclear Proteins
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Protein Tyrosine Phosphatases
MH  - Trans-Activators/*genetics
EDAT- 2000/02/03 09:00
MHDA- 2000/05/08 09:00
CRDT- 2000/02/03 09:00
PHST- 2000/02/03 09:00 [pubmed]
PHST- 2000/05/08 09:00 [medline]
PHST- 2000/02/03 09:00 [entrez]
AID - ddd040 [pii]
AID - 10.1093/hmg/9.3.363 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2000 Feb 12;9(3):363-6. doi: 10.1093/hmg/9.3.363.