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Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by the Chinese Smell Identification Test and facial pat...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861322/ https://www.ncbi.nlm.nih.gov/pubmed/35211159 http://dx.doi.org/10.3389/fgene.2022.808919 |
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author | Zhang, Qianwen Ding, Yu Feng, Biyun Tang, Yijun Chen, Yao Wang, Yirou Chang, Guoying Liu, Shijian Wang, Jian Li, Qian Fu, Lijun Wang, Xiumin |
author_facet | Zhang, Qianwen Ding, Yu Feng, Biyun Tang, Yijun Chen, Yao Wang, Yirou Chang, Guoying Liu, Shijian Wang, Jian Li, Qian Fu, Lijun Wang, Xiumin |
author_sort | Zhang, Qianwen |
collection | PubMed |
description | Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by the Chinese Smell Identification Test and facial pattern was analyzed with Face2gene. Fifty ALMS patients were included in this study, aged from 0.3 to 21.7 years old. Sixty-one ALMS1 variants in 50 patients from 47 different families were confirmed, including 59 truncating and two exon deletions. Twenty-four of those variants were novel. We also summarized all previously reported cases of Chinese ALMS patients (69 patients) and identified specific and common variants within the Chinese population. Besides, the Chinese Smell Identification Test scores in patients was lower than that in controls (11.97 Vs. 10.44, p < .05), indicating olfactory identification impairments in ALMS patients. The facial pattern in ALMS patients was also distinctive from that of the controls (p < .05). In conclusion, this is the largest cohort of Chinese ALMS patients. We have successfully identified both specific and common variants in our cohort. We found a new phenotype of olfactory impairments in ALMS patients through a case-control study. |
format | Online Article Text |
id | pubmed-8861322 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88613222022-02-23 Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients Zhang, Qianwen Ding, Yu Feng, Biyun Tang, Yijun Chen, Yao Wang, Yirou Chang, Guoying Liu, Shijian Wang, Jian Li, Qian Fu, Lijun Wang, Xiumin Front Genet Genetics Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by the Chinese Smell Identification Test and facial pattern was analyzed with Face2gene. Fifty ALMS patients were included in this study, aged from 0.3 to 21.7 years old. Sixty-one ALMS1 variants in 50 patients from 47 different families were confirmed, including 59 truncating and two exon deletions. Twenty-four of those variants were novel. We also summarized all previously reported cases of Chinese ALMS patients (69 patients) and identified specific and common variants within the Chinese population. Besides, the Chinese Smell Identification Test scores in patients was lower than that in controls (11.97 Vs. 10.44, p < .05), indicating olfactory identification impairments in ALMS patients. The facial pattern in ALMS patients was also distinctive from that of the controls (p < .05). In conclusion, this is the largest cohort of Chinese ALMS patients. We have successfully identified both specific and common variants in our cohort. We found a new phenotype of olfactory impairments in ALMS patients through a case-control study. Frontiers Media S.A. 2022-02-08 /pmc/articles/PMC8861322/ /pubmed/35211159 http://dx.doi.org/10.3389/fgene.2022.808919 Text en Copyright © 2022 Zhang, Ding, Feng, Tang, Chen, Wang, Chang, Liu, Wang, Li, Fu and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Zhang, Qianwen Ding, Yu Feng, Biyun Tang, Yijun Chen, Yao Wang, Yirou Chang, Guoying Liu, Shijian Wang, Jian Li, Qian Fu, Lijun Wang, Xiumin Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title | Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title_full | Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title_fullStr | Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title_full_unstemmed | Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title_short | Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients |
title_sort | molecular and phenotypic expansion of alström syndrome in chinese patients |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861322/ https://www.ncbi.nlm.nih.gov/pubmed/35211159 http://dx.doi.org/10.3389/fgene.2022.808919 |
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