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Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report.

Abstract Severe myopic anisometropia has been identified to have heritability, but the pathogenesis of anisometropia still remains obscure.
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title medicine
Publication Year Start




PMID- 28614238
OWN - NLM
STAT- MEDLINE
DA  - 20170614
DCOM- 20170706
LR  - 20170706
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 24
DP  - 2017 Jun
TI  - Exome sequencing identifies a novel UNC5D mutation in a severe myopic
      anisometropia family: A case report.
PG  - e7138
LID - 10.1097/MD.0000000000007138 [doi]
AB  - INTRODUCTION: Severe myopic anisometropia has been identified to have
      heritability, but the pathogenesis of anisometropia still remains obscure. CASE
      DESCRIPTION: Here, we presented a Chinese severe myopic anisometropia family with
      5 members affected. Though using the exome sequencing, we identified a novel
      mutation in the UNC5D gene (c.1297C>T, p.R433C), which was predicted to have a
      damage effect on the protein function and kept highly conserved throughout
      evolution across species. As previously described, the UNC5D gene belongs to the 
      UNC5 protein family and may have functions to regulate neuronal migration, axon
      guidance, and cell survival. The expression of UNC5D was also co-located at the
      visual areas of the mouse cortical regions at early postnatal ages. CONCLUSION:
      Our data provide the first evidence for involvement of UNC5D gene in the severe
      myopic anisometropia.
FAU - Feng, Lei
AU  - Feng L
AD  - aEye Center, The Second Affiliated Hospital of Zhejiang University School of
      Medicine bDepartment of General Surgery, Sir Run Run Shaw Hospital, College of
      Medicine, Zhejiang University, Hangzhou cBio-X Center, Key Laboratory for the
      Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education),
      Shanghai Jiao Tong University dInstitutes of Biomedical Sciences, Fudan
      University eKey Laboratory of Molecular Medicine, The Ministry of Education,
      Department of Biochemistry and Molecular Biology, Fudan University Shanghai
      Medical College, Shanghai, PR China.
FAU - Zhou, Daizhan
AU  - Zhou D
FAU - Zhang, Zhou
AU  - Zhang Z
FAU - He, Lin
AU  - He L
FAU - Liu, Yun
AU  - Liu Y
FAU - Yang, Yabo
AU  - Yang Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (UNC5H4 protein, human)
SB  - AIM
SB  - IM
MH  - Anisometropia/complications/*genetics
MH  - Asian Continental Ancestry Group/genetics
MH  - China
MH  - Exome
MH  - Family
MH  - Female
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Myopia/complications/*genetics
MH  - Receptors, Cell Surface/*genetics
EDAT- 2017/06/15 06:00
MHDA- 2017/07/07 06:00
CRDT- 2017/06/15 06:00
AID - 10.1097/MD.0000000000007138 [doi]
AID - 00005792-201706160-00024 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Jun;96(24):e7138. doi: 10.1097/MD.0000000000007138.