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

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机构： [1]Beijing 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, Capital Medical University, Beijing, 100045, China [2]China National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China

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关键词： 14q13 deletion Brain-lung-thyroid syndrome CNV-seq Immunodeficiency

摘要：

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. © 2019 The Author(s).

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出版当年[2018]版：

大类 | 4 区生物

小类 | 4 区遗传学

最新[2025]版：

大类 | 4 区生物学

小类 | 4 区遗传学

JCR分区：

出版当年[2017]版：

Q4 GENETICS & HEREDITY

最新[2023]版：

Q4 GENETICS & HEREDITY

影响因子： 1.3 最新[2023版] 1.3 最新五年平均 1.167 出版当年[2017版] 1.545 出版当年五年平均 1.455 出版前一年[2016版] 1.331 出版后一年[2018版]

第一作者：

第一作者机构： [1]Beijing 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, Capital Medical University, Beijing, 100045, China

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通讯作者：

通讯机构： [1]Beijing 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, Capital Medical University, Beijing, 100045, China [2]China National Clinical Research Center of Respiratory Diseases, Respiratory Department of Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China

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

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