A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
Abstract Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to...
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doaj-1d62416ffec4482abf14b0b0ad39e0622020-11-25T01:48:03ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-02-0182n/an/a10.1002/mgg3.1066A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohortShuo Li0Hui Miao1Hongbo Yang2Linjie Wang3Fengying Gong4Shi Chen5Huijuan Zhu6Hui Pan7Key Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaKey Laboratory of Endocrinology of National Health and Family Planning Commission Department of Endocrinology Peking Union Medical College Hospital Chinese Academy of Medical Science and Peking Union Medical College Beijing ChinaAbstract Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Subjects and methods Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty‐four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017. Results Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations. Conclusions By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.https://doi.org/10.1002/mgg3.1066Chinese CdLS patientsCornelia de Lange syndromeNIPBL mutationscoring system |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Shuo Li Hui Miao Hongbo Yang Linjie Wang Fengying Gong Shi Chen Huijuan Zhu Hui Pan |
spellingShingle |
Shuo Li Hui Miao Hongbo Yang Linjie Wang Fengying Gong Shi Chen Huijuan Zhu Hui Pan A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort Molecular Genetics & Genomic Medicine Chinese CdLS patients Cornelia de Lange syndrome NIPBL mutation scoring system |
author_facet |
Shuo Li Hui Miao Hongbo Yang Linjie Wang Fengying Gong Shi Chen Huijuan Zhu Hui Pan |
author_sort |
Shuo Li |
title |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort |
title_short |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort |
title_full |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort |
title_fullStr |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort |
title_full_unstemmed |
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort |
title_sort |
report of 2 cases of cornelia de lange syndrome (cdls) and an analysis of clinical and genetic characteristics in a chinese cdls cohort |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2020-02-01 |
description |
Abstract Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Subjects and methods Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty‐four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017. Results Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations. Conclusions By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations. |
topic |
Chinese CdLS patients Cornelia de Lange syndrome NIPBL mutation scoring system |
url |
https://doi.org/10.1002/mgg3.1066 |
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