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- 28851325
OWN - NLM
STAT- MEDLINE
DA  - 20170830
DCOM- 20170912
LR  - 20170912
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Aug 29
TI  - Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental 
      retardation.
PG  - 96
LID - 10.1186/s12881-017-0455-y [doi]
AB  - BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1
      mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental
      retardation (MR). METHODS: Four hundred and fifty-one patients were recruited,
      including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by
      a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1
      mutations were detected in four patients (three with RTT and one with RTT-like
      MR), including one previously described mutation and three novel mutations. These
      mutations included one missense and three micro-insertion mutations. Overall,
      0.7% (3/418) of patients who had RTT in our cohort had FOXG1 mutations. All
      patients had early global developmental delays followed later by severe mental
      retardation. None of the patients acquired speech or purposeful hand movements,
      and all of them presented with severe hypotonia, epilepsy, and hypoplasia of the 
      corpus callosum. CONCLUSIONS: Our findings extend the spectrum of FOXG1 mutations
      and the clinical features of RTT in Chinese patients. We recommend that patients 
      with congenital RTT and Rett-like MR, especially those with brain malformations, 
      such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations.
FAU - Zhang, Qingping
AU  - Zhang Q
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China.
FAU - Wang, Jiaping
AU  - Wang J
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China.
FAU - Li, Jiarui
AU  - Li J
AD  - Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene
      Research, School of Life Sciences, Peking University, Beijing, China.
FAU - Bao, Xinhua
AU  - Bao X
AUID- ORCID: http://orcid.org/0000-0003-3670-159X
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China. [email protected]
FAU - Zhao, Ying
AU  - Zhao Y
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China.
FAU - Zhang, Xiaoying
AU  - Zhang X
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China.
FAU - Wei, Liping
AU  - Wei L
AD  - Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene
      Research, School of Life Sciences, Peking University, Beijing, China.
FAU - Wu, Xiru
AU  - Wu X
AD  - Department of Pediatrics, Peking University First Hospital, Beijing, 100034,
      China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170829
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (FOXG1 protein, human)
RN  - 0 (Forkhead Transcription Factors)
RN  - 0 (Nerve Tissue Proteins)
SB  - IM
MH  - Adult
MH  - Asian Continental Ancestry Group
MH  - Child
MH  - DNA Mutational Analysis
MH  - Female
MH  - Forkhead Transcription Factors/*genetics
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Nerve Tissue Proteins/*genetics
MH  - Phenotype
MH  - Rett Syndrome/*genetics
MH  - Young Adult
PMC - PMC5575846
OTO - NOTNLM
OT  - Epilepsy
OT  - FOXG1
OT  - Hypoplasia of corpus callosum
OT  - RTT
OT  - RTT-like MR
EDAT- 2017/08/31 06:00
MHDA- 2017/09/13 06:00
CRDT- 2017/08/31 06:00
PHST- 2017/02/01 [received]
PHST- 2017/08/14 [accepted]
AID - 10.1186/s12881-017-0455-y [doi]
AID - 10.1186/s12881-017-0455-y [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Aug 29;18(1):96. doi: 10.1186/s12881-017-0455-y.