A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Abstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. Case presentation We performed whole exome sequencing...

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Main Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Molecular Cytogenetics
Subjects:
14q13 deletion
CNV-seq
Brain-lung-thyroid syndrome
Immunodeficiency
Online Access:https://doi.org/10.1186/s13039-019-0463-z
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spelling doaj-32d1817aeede487790ef2ad71a7c340b2020-12-20T12:21:06ZengBMCMolecular Cytogenetics1755-81662019-12-011211610.1186/s13039-019-0463-zA novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiencyXuyun Hu0Jun Liu1Ruolan Guo2Jun Guo3Zhipeng Zhao4Wei Li5Baoping Xu6Chanjuan Hao7Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChina National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChina National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthChina National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s HealthAbstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. Case presentation We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients. Conclusion Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.https://doi.org/10.1186/s13039-019-0463-z14q13 deletionCNV-seqBrain-lung-thyroid syndromeImmunodeficiency
collection DOAJ
language English
format Article
sources DOAJ
author Xuyun Hu
Jun Liu
Ruolan Guo
Jun Guo
Zhipeng Zhao
Wei Li
Baoping Xu
Chanjuan Hao
spellingShingle Xuyun Hu
Jun Liu
Ruolan Guo
Jun Guo
Zhipeng Zhao
Wei Li
Baoping Xu
Chanjuan Hao
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Molecular Cytogenetics
14q13 deletion
CNV-seq
Brain-lung-thyroid syndrome
Immunodeficiency
author_facet Xuyun Hu
Jun Liu
Ruolan Guo
Jun Guo
Zhipeng Zhao
Wei Li
Baoping Xu
Chanjuan Hao
author_sort Xuyun Hu
title A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
title_short A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
title_full A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
title_fullStr A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
title_full_unstemmed A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
title_sort novel 14q13.1–21.1 deletion identified by cnv-seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
publisher BMC
series Molecular Cytogenetics
issn 1755-8166
publishDate 2019-12-01
description Abstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 were identified. Case presentation We performed whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) for a patient with mild speech and motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis and triad of brain-lung-thyroid syndrome. By using CNV-seq, we identified a 3.1 Mb de novo interstitial deletion of the 14q13.2q21.1 region encompassing 17 OMIM genes including NKX2–1, PAX9 and NFKBIA. Our patient’s phenotype is consistent with other published 14q13 deletion patients. Conclusion Our results showed the combination of WES and CNV-seq is an effective diagnostic strategy for patients with genetic or genomic disorders. After reviewing published patients, we also proposed a new critical region for 14q13 deletion syndrome with is a more benign disorder compared to 14q11-q22 deletion syndrome.
topic 14q13 deletion
CNV-seq
Brain-lung-thyroid syndrome
Immunodeficiency
url https://doi.org/10.1186/s13039-019-0463-z
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