Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

Adolescent Alleles Child Child, Preschool China DNA Copy Number Variations Disease Management Dwarfism / diagnosis Exome Female Genetic Association Studies / methods Genetic Predisposition to Disease Genetic Testing Genotype Humans Male Mutation Odds Ratio Phenotype Polymorphism, Single Nucleotide Syndrome Exome Sequencing
Exome sequencing Genes and growth Molecular diagnosis Short stature Variants

Journal

Journal of genetics and genomics = Yi chuan xue bao
ISSN: 1673-8527
Titre abrégé: J Genet Genomics
Pays: China
ID NLM: 101304616

Informations de publication

Date de publication:
20 05 2021
Historique:
received: 04 10 2020
revised: 08 02 2021
accepted: 20 02 2021
pubmed: 20 5 2021
medline: 18 1 2022
entrez: 19 5 2021
Statut: ppublish

Résumé

Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations. Although the diagnostic utility of clinical genetic testing in short stature has been implicated, the genetic architecture and the utility of genomic studies such as exome sequencing (ES) in a sizable cohort of patients with short stature have not been investigated systematically. In this study, we recruited 561 individuals with short stature from two centers in China during a 4-year period. We performed ES for all patients and available parents. All patients were retrospectively divided into two groups: an isolated short stature group (group I, n = 257) and an apparently syndromic short stature group (group II, n = 304). Causal variants were identified in 135 of 561 (24.1%) patients. In group I, 29 of 257 (11.3%) of the patients were solved by variants in 24 genes. In group II, 106 of 304 (34.9%) patients were solved by variants in 57 genes. Genes involved in fundamental cellular process played an important role in the genetic architecture of syndromic short stature. Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature.

Identifiants

DOI: 10.1016/j.jgg.2021.02.008 PMID: 34006472
pubmed: 34006472
pii: S1673-8527(21)00061-8
doi: 10.1016/j.jgg.2021.02.008
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

396-402

Subventions

Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NHGRI NIH HHS
ID : K08 HG008986
Pays : United States

Informations de copyright

Copyright © 2021 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Conflicts of interest J.R.L. has stock ownership in 23andMe, is a paid consultant for the Regeneron Genetics Center, and is a coinventor on multiple United States and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from the chromosomal microarray analysis and clinical genomic sequencing offered in the Baylor Genetics (BG) Laboratory (http://bmgl.com). P.L. has a professional service agreement with Baylor College of Medicine and Baylor Genetics (BG), outside the submitted work. The other authors declare no potential conflicts of interest.

Auteurs

Xin Fan (X)

Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.

Sen Zhao (S)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.

Chenxi Yu (C)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.

Di Wu (D)

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

Zihui Yan (Z)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.

Lijun Fan (L)

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

Yanning Song (Y)

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

Yi Wang (Y)

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

Chuan Li (C)

Department of Pediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China; Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China.

Yue Ming (Y)

PET-CT Center, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

Baoheng Gui (B)

Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.

Yuchen Niu (Y)

Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Xiaoxin Li (X)

Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Xinzhuang Yang (X)

Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Shiyu Luo (S)

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China.

Qiang Zhang (Q)

Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi, Nanning, Guangxi 530003, China.

Xiuli Zhao (X)

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.

Hui Pan (H)

Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Mei Li (M)

Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Weibo Xia (W)

Department of Endocrine and Metabolism, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Guixing Qiu (G)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.

Pengfei Liu (P)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Baylor Genetics, Houston, TX 77021, USA.

Shuyang Zhang (S)

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.

Jianguo Zhang (J)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.

Zhihong Wu (Z)

Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Medical Research Center, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing 100730, China.

James R Lupski (JR)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

Jennifer E Posey (JE)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Shaoke Chen (S)

Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Guangxi 530003, China.

Chunxiu Gong (C)

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China. Electronic address: chunxiugong@sina.com.

Nan Wu (N)

Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing 100730, China; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: dr.wunan@pumch.cn.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Régions géographiques › Asie › Extrême-Orient › Chine › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Prise en charge de la maladie › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Maladies endocriniennes › Nanisme › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Exome › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Odds ratio › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › Exome sequencing reveals genetic architecture...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Exome sequencing reveals genetic architecture...