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Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.

Abstract Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.
PMID
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Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Authors

Mayor MeshTerms

Mutation

Keywords

ALMS1 gene

Alström syndrome

Cone-rod dystrophy

Whole genome sequencing

Journal Title bmc medical genetics
Publication Year Start




PMID- 28724398
OWN - NLM
STAT- MEDLINE
DA  - 20170720
DCOM- 20170724
LR  - 20170724
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Jul 19
TI  - Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese
      siblings with Alstrom syndrome.
PG  - 75
LID - 10.1186/s12881-017-0418-3 [doi]
AB  - BACKGROUND: Alstrom syndrome is a rare multi-systemic disorder with a broad
      spectrum of symptoms. This syndrome is characterized by childhood retinal
      degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus;
      cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.
      CASE PRESENTATION: A Chinese quartet family with two siblings predominantly
      affected by cone-rod dystrophy and short stature were recruited. The craniofacial
      dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor
      intrafamilial variability. Whole genome sequencing was performed to provide the
      full spectrum of the two siblings' genetic variations. In this study, we present 
      the patients' clinical features and our interpretation of the whole genome
      sequencing data. After examining the data, we focus on two compound heterozygous 
      mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are
      shared by two siblings. CONCLUSION: We reported a novel ALMS1 mutation. Whole
      genome sequencing is a powerful tool to provide the full spectrum of genetic
      variations for heterogeneous disorders such as Alstrom syndrome.
FAU - Yang, Lin
AU  - Yang L
AD  - Division of Endocrinology, Genetics and Metabolic Diseases, Children's Hospital
      of Fudan University, Shanghai, China.
AD  - Key Laboratory of Birth Defects, Children's Hospital of Fudan University,
      Shanghai, China.
FAU - Li, Zixiu
AU  - Li Z
AD  - Department of Biostatistics and Computational Biology, Life Science, Fudan
      University, Shanghai, China.
FAU - Mei, Mei
AU  - Mei M
AD  - Division of Respiration, Children's Hospital of Fudan University, Shanghai,
      China.
FAU - Fan, Xiaomei
AU  - Fan X
AD  - BGI technology, Shanghai, China.
FAU - Zhan, Guodong
AU  - Zhan G
AD  - Department of Biostatistics and Computational Biology, Life Science, Fudan
      University, Shanghai, China.
FAU - Wang, Huijun
AU  - Wang H
AD  - Key Laboratory of Birth Defects, Children's Hospital of Fudan University,
      Shanghai, China.
FAU - Huang, Guoying
AU  - Huang G
AD  - Key Laboratory of Birth Defects, Children's Hospital of Fudan University,
      Shanghai, China.
FAU - Wang, Mingbang
AU  - Wang M
AD  - BGI technology, Shanghai, China.
FAU - Tian, Weidong
AU  - Tian W
AD  - Department of Biostatistics and Computational Biology, Life Science, Fudan
      University, Shanghai, China.
FAU - Zhou, Wenhao
AU  - Zhou W
AUID- ORCID: http://orcid.org/0000-0001-8956-7238
AD  - Key Laboratory of Birth Defects, Children's Hospital of Fudan University,
      Shanghai, China. [email protected]
AD  - Department of Biostatistics and Computational Biology, Life Science, Fudan
      University, Shanghai, China. [email protected]
AD  - Key Laboratory of Neonatal Diseases, Ministry of Health, Children's Hospital of
      Fudan University, Shanghai, China. [email protected]
AD  - Department of Neonates, Children's Hospital, Fudan University, 399 Wan Yuan Road,
      Shanghai, China, 201102. [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170719
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (ALMS1 protein, human)
RN  - 0 (Proteins)
SB  - IM
MH  - Adolescent
MH  - Alstrom Syndrome/*genetics
MH  - Asian Continental Ancestry Group
MH  - Child
MH  - Genome, Human
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Proteins/*genetics
MH  - Sequence Analysis, DNA
MH  - Siblings
OTO - NOTNLM
OT  - ALMS1 gene
OT  - Alstrom syndrome
OT  - Cone-rod dystrophy
OT  - Whole genome sequencing
EDAT- 2017/07/21 06:00
MHDA- 2017/07/25 06:00
CRDT- 2017/07/21 06:00
PHST- 2015/12/02 [received]
PHST- 2017/05/06 [accepted]
AID - 10.1186/s12881-017-0418-3 [doi]
AID - 10.1186/s12881-017-0418-3 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Jul 19;18(1):75. doi: 10.1186/s12881-017-0418-3.