دورية أكاديمية
أعرض في EDS

Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.

التفاصيل البيبلوغرافية
العنوان: Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.
المؤلفون: Qian C; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China., Yan J, Huang X, Wang Z, Lin F
المصدر: Medicine [Medicine (Baltimore)] 2024 Aug 02; Vol. 103 (31), pp. e39216.
نوع المنشور: Journal Article; Case Reports
اللغة: English
بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins
مواضيع طبية MeSH: Polycystic Kidney, Autosomal Recessive*/genetics , Receptors, Cell Surface*/genetics , Codon, Nonsense* , Pedigree*, Humans ; Female ; China ; Male ; Exome Sequencing ; Asian People/genetics ; RNA Splice Sites/genetics ; Mutation, Missense ; Adult ; East Asian People
مستخلص: Background: This study aims to report the clinical characteristics of a child with autosomal recessive polycystic kidney disease (ARPKD) within a Chinese Zhuang ethnic family.
Methods: We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease. Candidate pathogenic variants were validated by Sanger sequencing.
Results: We identified previously unreported mutations in the PKHD1 gene of the proband with ARPKD through WES: a splice site mutation c.6809-2A > T, a nonsense mutation c.4192C > T(p.Gln1398Ter), and a missense mutation c.2181T > G(p.Asn727Lys). Her mother is a heterozygous carrier of c.2181T > G(p.Asn727Lys) mutation. Her father is a carrier of c.6809-2A > T mutation and c.4192C > T(p.Gln1398Ter) mutation.
Conclusions: The identification of novel mutations in the PKHD1 gene through WES not only expands the spectrum of known variants but also potentially enhances genetic counseling and prenatal diagnostic approaches for families affected by ARPKD.
Competing Interests: The authors have no conflicts of interest to disclose.
(Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)
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المشرفين على المادة: 0 (PKHD1 protein, human)
0 (Receptors, Cell Surface)
0 (Codon, Nonsense)
0 (RNA Splice Sites)
تواريخ الأحداث: Date Created: 20240802 Date Completed: 20240802 Latest Revision: 20240805
رمز التحديث: 20240805
مُعرف محوري في PubMed: PMC11296461
DOI: 10.1097/MD.0000000000039216
PMID: 39093746
قاعدة البيانات: MEDLINE
الوصف
تدمد:1536-5964
DOI:10.1097/MD.0000000000039216