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

BACKGROUNDAlström 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 failur... Full description

Journal Title: BMC medical genetics July 19, 2017, Vol.18(1), p.75
Main Author: Yang, Lin
Other Authors: Li, Zixiu , Mei, Mei , Fan, Xiaomei , Zhan, Guodong , Wang, Huijun , Huang, Guoying , Wang, Mingbang , Tian, Weidong , Zhou, Wenhao
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1471-2350 ; DOI: 10.1186/s12881-017-0418-3
Link: http://search.proquest.com/docview/1921129805/?pq-origsite=primo
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title: Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
format: Article
creator:
  • Yang, Lin
  • Li, Zixiu
  • Mei, Mei
  • Fan, Xiaomei
  • Zhan, Guodong
  • Wang, Huijun
  • Huang, Guoying
  • Wang, Mingbang
  • Tian, Weidong
  • Zhou, Wenhao
subjects:
  • Adolescent–Genetics
  • Alstrom Syndrome–Genetics
  • Asian Continental Ancestry Group–Genetics
  • Child–Genetics
  • Genome, Human–Genetics
  • Humans–Genetics
  • Male–Genetics
  • Mutation–Genetics
  • Proteins–Genetics
  • Sequence Analysis, DNA–Genetics
  • Siblings–Genetics
  • Alms1 Protein, Human
  • Proteins
  • Alms1 Gene
  • Alström Syndrome
  • Cone-Rod Dystrophy
  • Whole Genome Sequencing
ispartof: BMC medical genetics, July 19, 2017, Vol.18(1), p.75
description: BACKGROUNDAlström 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 PRESENTATIONA 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. CONCLUSIONWe reported a novel ALMS1 mutation....
language: eng
source:
identifier: E-ISSN: 1471-2350 ; DOI: 10.1186/s12881-017-0418-3
fulltext: fulltext
issn:
  • 14712350
  • 1471-2350
url: Link


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titleWhole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
creatorYang, Lin ; Li, Zixiu ; Mei, Mei ; Fan, Xiaomei ; Zhan, Guodong ; Wang, Huijun ; Huang, Guoying ; Wang, Mingbang ; Tian, Weidong ; Zhou, Wenhao
contributorYang, Lin (correspondence author) ; Yang, Lin (record owner)
ispartofBMC medical genetics, July 19, 2017, Vol.18(1), p.75
identifierE-ISSN: 1471-2350 ; DOI: 10.1186/s12881-017-0418-3
subjectAdolescent–Genetics ; Alstrom Syndrome–Genetics ; Asian Continental Ancestry Group–Genetics ; Child–Genetics ; Genome, Human–Genetics ; Humans–Genetics ; Male–Genetics ; Mutation–Genetics ; Proteins–Genetics ; Sequence Analysis, DNA–Genetics ; Siblings–Genetics ; Alms1 Protein, Human ; Proteins ; Alms1 Gene ; Alström Syndrome ; Cone-Rod Dystrophy ; Whole Genome Sequencing
descriptionBACKGROUNDAlström 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 PRESENTATIONA 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. CONCLUSIONWe reported a novel ALMS1 mutation....
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titleWhole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
descriptionBACKGROUNDAlström 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 PRESENTATIONA 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. CONCLUSIONWe reported a novel ALMS1 mutation....
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titleWhole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
authorYang, Lin ; Li, Zixiu ; Mei, Mei ; Fan, Xiaomei ; Zhan, Guodong ; Wang, Huijun ; Huang, Guoying ; Wang, Mingbang ; Tian, Weidong ; Zhou, Wenhao
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abstractBACKGROUNDAlström 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 PRESENTATIONA 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. CONCLUSIONWe reported a novel ALMS1 mutation....
doi10.1186/s12881-017-0418-3
urlhttp://search.proquest.com/docview/1921129805/
date2017-07-19