PMID- 26770560
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20160115
LR  - 20201001
IS  - 1940-5901 (Print)
IS  - 1940-5901 (Electronic)
IS  - 1940-5901 (Linking)
VI  - 8
IP  - 10
DP  - 2015
TI  - Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of 
      achondroplasia.
PG  - 19241-9
AB  - OBJECTIVE: To investigate the feasibility of whole exome sequencing (WES) and 
      whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia 
      (ACH). METHODS: Eleven highly suspected with ACH or hypochondroplasia (HCH) 
      fetuses and their parents were enrolled in this study. Routine prenatal 
      examinations were carried out in all pregnant women. WGS was performed for the 
      detection of copy number variation (CNV). WES was conducted to determine the 
      mutation of fibroblast growth factor receptor 3 (FGFR3) gene in one special 
      family with rickets and dwarfism. Moreover, all subjects were performed Sanger 
      sequencing for the screening of high frequent mutation sites in FGFR3 gene. 
      RESULTS: For ultrasound (US) examination, short femur was noted in all fetuses 
      with FL less than 4SD and 2SD in 8 cases and one case compared with those of 
      normal gestational weeks, respectively. CNV abnormality was identified in 5 
      cases, including heterozygous deletion in 4 cases and heterozygous duplication in 
      one case. Among these variation, one case was acknowledged to be pathogenic, one 
      case was identified as genomic polymorphism, while the pathogenicity remained 
      unknown in other 3 cases. For the exome and Sanger sequencing, heterozygous 
      mutation p.Tyr278Cys (833A>G) was noted in the fetus and husband of the special 
      family, while homozygous c.1959+19G>A mutation was identified in another case. 
      CONCLUSION: Multiple sequencing technologies may provide an additional diagnostic 
      tool and facilitates genetic counseling in the patients with ACH. Further 
      improvement of gene sequencing should be done in the prenatal diagnosis for the 
      mutant screening in other genes.
FAU - Zhao, Rong
AU  - Zhao R
AD  - Gynecology and Obstetrics, Capital Medical University Affiliated Beijing 
      Obstetrics and Gynecology Hospital Beijing, China.
FAU - Ruan, Yan
AU  - Ruan Y
AD  - Gynecology and Obstetrics, Capital Medical University Affiliated Beijing 
      Obstetrics and Gynecology Hospital Beijing, China.
FAU - Wang, Xin
AU  - Wang X
AD  - Gynecology and Obstetrics, Capital Medical University Affiliated Beijing 
      Obstetrics and Gynecology Hospital Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20151015
PL  - United States
TA  - Int J Clin Exp Med
JT  - International journal of clinical and experimental medicine
JID - 101471010
PMC - PMC4694460
OTO - NOTNLM
OT  - Achondroplasia
OT  - hypochondroplasia
OT  - sanger sequencing
OT  - whole genome re-sequencing
OT  - whole-exome sequencing
EDAT- 2016/01/16 06:00
MHDA- 2016/01/16 06:01
PMCR- 2015/10/15
CRDT- 2016/01/16 06:00
PHST- 2015/07/27 00:00 [received]
PHST- 2015/09/28 00:00 [accepted]
PHST- 2016/01/16 06:00 [entrez]
PHST- 2016/01/16 06:00 [pubmed]
PHST- 2016/01/16 06:01 [medline]
PHST- 2015/10/15 00:00 [pmc-release]
PST - epublish
SO  - Int J Clin Exp Med. 2015 Oct 15;8(10):19241-9. eCollection 2015.