PMID- 31400129
OWN - NLM
STAT- MEDLINE
DCOM- 20190924
LR  - 20190925
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 36
IP  - 8
DP  - 2019 Aug 10
TI  - [Phenotype and genetic analysis of a pedigree affected with progressive familial 
      intrahepatic cholestasis].
PG  - 789-793
LID - 10.3760/cma.j.issn.1003-9406.2019.08.009 [doi]
AB  - OBJECTIVE: To explore the genetic etiology for a pedigree affected with 
      progressive familial intrahepatic cholestasis (PFIC). METHODS: Target sequence 
      capture and next generation sequencing (NGS) were applied for the proband. PCR 
      and Sanger sequencing were used to verify the suspected mutation in his sister 
      with similar symptoms and his parents. RESULTS: The proband and his sister 
      manifested after birth with symptoms including jaundice, pruritus and 
      developmental retardation. NGS has identified compound heterozygous mutations of 
      ABCB11 gene, which encodes bile salt export pump protein (BSEP), namely c.2494C>T 
      (p.Arg832Cys) and c.3223C>T (p.Gln1075*), in the proband, which were inherited 
      from his father and mother respectively. His sister carried the same compound 
      mutations. CONCLUSION: Based on the phenotype and genetic testing, the patients 
      were diagnosed as PFIC2 caused by mutation of the ABCB11 gene. The c.3223C>T is a 
      novel nonsense mutation which may cause premature termination of translation. 
      Above results have enriched the spectrum of ABCB11 mutations and provided new 
      evidence for the molecular basis of PFIC, which also facilitated genetic 
      counseling for this pedigree.
FAU - Wu, Qinghua
AU  - Wu Q
AD  - Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and 
      Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, 
      Henan 450052, China. qh_wu77@163.com.
FAU - Ma, Beibei
AU  - Ma B
FAU - Yang, Saisai
AU  - Yang S
FAU - Mei, Shiyue
AU  - Mei S
FAU - Ma, Xiyang
AU  - Ma X
FAU - Kong, Xiangdong
AU  - Kong X
FAU - Shi, Huirong
AU  - Shi H
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  - 0 (ABCB11 protein, human)
RN  - 0 (ATP Binding Cassette Transporter, Subfamily B, Member 11)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - Cholestasis, progressive familial intrahepatic 1
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily B, Member 11/*genetics
MH  - *ATP-Binding Cassette Transporters
MH  - Cholestasis, Intrahepatic/*genetics
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
EDAT- 2019/08/11 06:00
MHDA- 2019/09/26 06:00
CRDT- 2019/08/11 06:00
PHST- 2019/08/11 06:00 [entrez]
PHST- 2019/08/11 06:00 [pubmed]
PHST- 2019/09/26 06:00 [medline]
AID - 940636165 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2019.08.009 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):789-793. doi: 
      10.3760/cma.j.issn.1003-9406.2019.08.009.