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Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.

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收录情况： ◇ SCIE

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机构： [1]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. [2]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, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China. [3]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, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China. Electronic address: liwei@bch.com.cn. [4]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. Electronic address: aleipicu@me.com.

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关键词： ANKS6 Compound heterozygous mutation Nephronophthisis Whole-exome sequencing

摘要：

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. NPHP and the related syndromes have been termed 'ciliopathies' because most NPHP gene products localize to the cilium or its associated structures. Here, we report a 2-year and 11-month-old Chinese girl with end-stage renal disease (ESRD), severe anemia, thrombocytopenia and myocardial hypertrophy. We performed trio-whole-exome sequencing to identify the causative variant of this patient. We identified an unreported compound heterozygous mutation (c.2420dupT, p.Thr808Aspfs*2 and c.1973-1G > A) in ANKS6 in the proband. The frameshift mutation c.2420dupT of ANKS6 was inherited from the proband's unaffected father and the splicing mutation c.1973-1G > A of ANKS6 was inherited from the proband's unaffected mother. Homozygous mutation in ANKS6 leads to NPHP16 (OMIM#615382) and this is the first case with a compound heterozygous mutation in the NPHP16 gene. We have identified a patient with ANKS6 variants in the East-Asian population for the first time. This case report expands the clinical and genetic spectra of NPHP and emphasizes the usefulness of whole-exome sequencing for genetic diagnosis of kidney disease. Copyright © 2019 Elsevier B.V. All rights reserved.

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出版当年[2018]版：

大类 | 3 区医学

小类 | 2 区医学实验技术

最新[2023]版：

大类 | 3 区医学

小类 | 3 区医学实验技术

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出版当年[2017]版：

Q2 MEDICAL LABORATORY TECHNOLOGY

最新[2023]版：

Q2 MEDICAL LABORATORY TECHNOLOGY

影响因子： 3.2 最新[2023版] 3.7 最新五年平均 2.926 出版当年[2017版] 2.869 出版当年五年平均 2.873 出版前一年[2016版] 2.735 出版后一年[2018版]

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第一作者机构： [1]Pediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

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