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Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China

BACKGROUND: Earlier studies have suggested that microtia is a genetic disease with a worldwide incidence of microtia is between 0.83/10,000 and 17.40/10,000. For microtia, auricle morphology is the most crucial characteristic. However, no studies have been performed to characterize the genetic simil...

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Autores principales: Zhang, Hua-Song, Chen, Sui-Jun, Zeng, Hai-Cang, Xiong, Hao, Lin, Jun-Feng, Xu, Yao-Dong, Zhao, Hui-Ying, Zheng, Yi-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210143/
https://www.ncbi.nlm.nih.gov/pubmed/32395540
http://dx.doi.org/10.21037/atm.2020.03.212
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author Zhang, Hua-Song
Chen, Sui-Jun
Zeng, Hai-Cang
Xiong, Hao
Lin, Jun-Feng
Xu, Yao-Dong
Zhao, Hui-Ying
Zheng, Yi-Qing
author_facet Zhang, Hua-Song
Chen, Sui-Jun
Zeng, Hai-Cang
Xiong, Hao
Lin, Jun-Feng
Xu, Yao-Dong
Zhao, Hui-Ying
Zheng, Yi-Qing
author_sort Zhang, Hua-Song
collection PubMed
description BACKGROUND: Earlier studies have suggested that microtia is a genetic disease with a worldwide incidence of microtia is between 0.83/10,000 and 17.40/10,000. For microtia, auricle morphology is the most crucial characteristic. However, no studies have been performed to characterize the genetic similarity of microtia and auricle morphology similarity. For the sporadic patients, the relationship between the gestational age of parents and the incidence of microtia is unclear. To obtain the characteristics of auricular deformity multiple case family (AD-MCF) and clarify the relationship between genetic similarity and auricle morphology similarity in AD-MCF. METHODS: This study included 463 AD patients who were diagnosed by Sun Yat-sen Memorial Hospital, Sun Yat-sen University, from 2013 to 2019. Among these patients, 116 are from 43 MCF and the other 347 patients are sporadic. For the patients from families, the disease status of the four generations of immediate family members and the family tree map were collected to analyze the similarity of auricle shape in family members. A score evaluated the similarity of auricle shape according to the structure of the residual ear and the similarity in the morphology of each auricle. Moreover, the population distribution of AD and the gestational age of patients were further analyzed. RESULTS: From 2013 to 2019, a total of 463 patients were diagnosed as microtia in our hospital. There were 427 patients with unilateral disease and 36 patients with bilateral disease. Among them, 116 patients were from 34 families and 9 de novo families. The total scores of patients in different genetic difference levels were compared and were found significantly different (P<0.001). Moreover, 58.14% of families were consistent with the law of chromosomal recessive genetic diseases. Importantly, we found that the gestational age of father in microtia de novo families is 30.94±0.75, and mother in de novo is 28.39±0.73 that is significantly higher than the gestational ages of parents from microtia families with P value =0.0001. CONCLUSIONS: The auricle similarity between family members is positively related to the genetic distance between family members. The microtia patients are potentially associated with the gestational ages of parents.
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spelling pubmed-72101432020-05-11 Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China Zhang, Hua-Song Chen, Sui-Jun Zeng, Hai-Cang Xiong, Hao Lin, Jun-Feng Xu, Yao-Dong Zhao, Hui-Ying Zheng, Yi-Qing Ann Transl Med Original Article BACKGROUND: Earlier studies have suggested that microtia is a genetic disease with a worldwide incidence of microtia is between 0.83/10,000 and 17.40/10,000. For microtia, auricle morphology is the most crucial characteristic. However, no studies have been performed to characterize the genetic similarity of microtia and auricle morphology similarity. For the sporadic patients, the relationship between the gestational age of parents and the incidence of microtia is unclear. To obtain the characteristics of auricular deformity multiple case family (AD-MCF) and clarify the relationship between genetic similarity and auricle morphology similarity in AD-MCF. METHODS: This study included 463 AD patients who were diagnosed by Sun Yat-sen Memorial Hospital, Sun Yat-sen University, from 2013 to 2019. Among these patients, 116 are from 43 MCF and the other 347 patients are sporadic. For the patients from families, the disease status of the four generations of immediate family members and the family tree map were collected to analyze the similarity of auricle shape in family members. A score evaluated the similarity of auricle shape according to the structure of the residual ear and the similarity in the morphology of each auricle. Moreover, the population distribution of AD and the gestational age of patients were further analyzed. RESULTS: From 2013 to 2019, a total of 463 patients were diagnosed as microtia in our hospital. There were 427 patients with unilateral disease and 36 patients with bilateral disease. Among them, 116 patients were from 34 families and 9 de novo families. The total scores of patients in different genetic difference levels were compared and were found significantly different (P<0.001). Moreover, 58.14% of families were consistent with the law of chromosomal recessive genetic diseases. Importantly, we found that the gestational age of father in microtia de novo families is 30.94±0.75, and mother in de novo is 28.39±0.73 that is significantly higher than the gestational ages of parents from microtia families with P value =0.0001. CONCLUSIONS: The auricle similarity between family members is positively related to the genetic distance between family members. The microtia patients are potentially associated with the gestational ages of parents. AME Publishing Company 2020-04 /pmc/articles/PMC7210143/ /pubmed/32395540 http://dx.doi.org/10.21037/atm.2020.03.212 Text en 2020 Annals of Translational Medicine. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) .
spellingShingle Original Article
Zhang, Hua-Song
Chen, Sui-Jun
Zeng, Hai-Cang
Xiong, Hao
Lin, Jun-Feng
Xu, Yao-Dong
Zhao, Hui-Ying
Zheng, Yi-Qing
Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title_full Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title_fullStr Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title_full_unstemmed Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title_short Characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in South China
title_sort characteristics of 43 multiple auricular deformity case families and auricle morphology in 463 microtia patients in south china
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210143/
https://www.ncbi.nlm.nih.gov/pubmed/32395540
http://dx.doi.org/10.21037/atm.2020.03.212
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