PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.




PMID- 28249924
OWN - NLM
STAT- MEDLINE
DA  - 20170302
DCOM- 20170313
LR  - 20170313
IS  - 1550-8080 (Electronic)
IS  - 0091-7370 (Linking)
VI  - 47
IP  - 1
DP  - 2017 Jan
TI  - Whole Exome Sequencing Identifies a Novel Mutation in the PITX3 Gene, Causing
      Autosomal Dominant Congenital Cataracts in a Chinese Family.
PG  - 92-95
AB  - BACKGROUND: Congenital cataract is the cloudiness of the eye's natural lens and
      is a primary cause of congenital vision loss. It accounts for almost 10% of
      childhood vision loss worldwide. METHODS: A four generation Chinese family having
      seven affected individuals was recruited for the current study. Exome sequencing 
      was performed to identify the genetic cause of congenital cataract. RESULTS:
      Analysis of data identified a novel frameshift mutation, c.608delC (p.A203fs), in
      the PITX3 gene. This mutation was only observed in the affected individuals while
      the unaffected members of the family as well as 100 ethnically matched normal
      controls did not contain this deletion. CONCLUSION: These findings suggest that
      p.A203fs is the cause of cataracts in the recruited family. This information
      would be further helpful in the genetic diagnosis of cataract and in the genetic 
      counseling of similar patients.
CI  - (c) 2017 by the Association of Clinical Scientists, Inc.
FAU - Liu, Hui
AU  - Liu H
AD  - Maternity and Child Health Hospital of Anhui Province, The Maternal and Child
      Health Clinical College, Anhui Medical University, Hefei, China.
FAU - Liu, Hankui
AU  - Liu H
AD  - BGI-Shenzhen, Shenzhen, China.
FAU - Tang, Junxiang
AU  - Tang J
AD  - Maternity and Child Health Hospital of Anhui Province, The Maternal and Child
      Health Clinical College, Anhui Medical University, Hefei, China.
FAU - Lin, Qiongfen
AU  - Lin Q
AD  - BGI-Shenzhen, Shenzhen, China.
FAU - Sun, Yuxiu
AU  - Sun Y
AD  - Maternity and Child Health Hospital of Anhui Province, The Maternal and Child
      Health Clinical College, Anhui Medical University, Hefei, China.
FAU - Wang, Chaohong
AU  - Wang C
AD  - Maternity and Child Health Hospital of Anhui Province, The Maternal and Child
      Health Clinical College, Anhui Medical University, Hefei, China.
FAU - Yang, Huanming
AU  - Yang H
AD  - BGI-Shenzhen, Shenzhen, China.
FAU - Khan, Muhammad Riaz
AU  - Khan MR
AD  - School of Life Sciences, University of Science and Technology of China, Hefei,
      Anhui, China.
FAU - Peerbux, Mohamud Walid
AU  - Peerbux MW
AD  - Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
FAU - Ahmad, Sohail
AU  - Ahmad S
AD  - Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan.
FAU - Bukhari, Ihtisham
AU  - Bukhari I
AD  - School of Life Sciences, University of Science and Technology of China, Hefei,
      Anhui, China bukhari@ksu.edu.sa.
AD  - Department of Biochemistry, King Saud University, Riyadh, Kingdom of Saudi
      Arabia.
FAU - Zhu, Jiansheng
AU  - Zhu J
AD  - Maternity and Child Health Hospital of Anhui Province, The Maternal and Child
      Health Clinical College, Anhui Medical University, Hefei, China
      jennytiger97@hotmail.com.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann Clin Lab Sci
JT  - Annals of clinical and laboratory science
JID - 0410247
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (homeobox protein PITX3)
RN  - Cataract, Autosomal Dominant
SB  - IM
MH  - Asian Continental Ancestry Group/*genetics
MH  - Cataract/*congenital/*genetics
MH  - Child
MH  - DNA Mutational Analysis
MH  - Ethnic Groups/genetics
MH  - Exome/*genetics
MH  - Family
MH  - Female
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics
OTO - NOTNLM
OT  - Blindness
OT  - Cataract
OT  - Frame-shift Mutation
OT  - PITX3 gene
OT  - Vision loss
EDAT- 2017/03/03 06:00
MHDA- 2017/03/14 06:00
CRDT- 2017/03/03 06:00
AID - 47/1/92 [pii]
PST - ppublish
SO  - Ann Clin Lab Sci. 2017 Jan;47(1):92-95.

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