PMID- 28777841
OWN - NLM
STAT- MEDLINE
DCOM- 20171205
LR  - 20171205
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 4
DP  - 2017 Aug 10
TI  - [Genetic analysis of three families affected with split-hand/split-foot 
      malformation].
PG  - 476-480
LID - 10.3760/cma.j.issn.1003-9406.2017.04.002 [doi]
AB  - OBJECTIVE: To explore the genetic etiology of three families affected with 
      split-hand/split-foot malformation (SHFM). METHODS: Peripheral venous blood 
      samples from 21 members of pedigree 1, 2 members of pedigree 2, and 2 members of 
      pedigree 3 were collected. PCR-Sanger sequencing, microarray chip, fluorescence 
      in situ hybridization (FISH), real-time PCR, and next-generation sequencing were 
      employed to screen the mutations in the 3 families. The effect of the identified 
      mutations on the finger (toe) abnormality were also explored. RESULTS: Microarray 
      and real-time PCR analysis has identified a duplication in all patients from 
      pedigrees 1 and 3, which have spanned FKSG40, TLX1, LBX1, BTRC, POLL and FBXW4 
      (exons 6-9) and LBX1, BTRC, POLL and FBXW4 (exons 6-9) genes, respectively. A 
      missense mutation of the TP63 gene, namely c.692A>G (p.Tyr231Cys), was found in 
      two patients from pedigree 2. FISH analysis of chromosome 10 showed that the 
      rearrangement could fita tandem duplication model. However, next-generation 
      sequencing did not identify the breakpoint. CONCLUSION: The genetic etiology for 
      three families affected with SHFM have been identified, which has provideda basis 
      for genetic counseling and guidance for reproduction.
FAU - He, Wenbin
AU  - He W
AD  - Institute of Reproductive and Stem Cell Engineering, Central South University, 
      Changsha, Hunan 410078, China. liwen1968@csu.edu.cn.
FAU - Lin, Ge
AU  - Lin G
FAU - Liang, Ping
AU  - Liang P
FAU - Cheng, Dehua
AU  - Cheng D
FAU - Hu, Xiao
AU  - Hu X
FAU - Zhou, Lihua
AU  - Zhou L
FAU - Xiong, Bo
AU  - Xiong B
FAU - Tan, Yueqiu
AU  - Tan Y
FAU - Lu, Guangxiu
AU  - Lu G
FAU - Li, Wen
AU  - Li W
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - Split hand foot deformity
SB  - IM
MH  - Chromosomes, Human, Pair 10/genetics
MH  - Female
MH  - Foot Deformities, Congenital/*genetics
MH  - Genetic Testing
MH  - Hand Deformities, Congenital/*genetics
MH  - Humans
MH  - Limb Deformities, Congenital/*genetics
MH  - Male
MH  - Mutation/*genetics
MH  - Pedigree
EDAT- 2017/08/05 06:00
MHDA- 2017/12/06 06:00
CRDT- 2017/08/05 06:00
PHST- 2017/08/05 06:00 [entrez]
PHST- 2017/08/05 06:00 [pubmed]
PHST- 2017/12/06 06:00 [medline]
AID - 940634096 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.04.002 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):476-480. doi: 
      10.3760/cma.j.issn.1003-9406.2017.04.002.