揭开罕见的内分泌之谜：一例 CDKN1B 基因突变相关的 MEN4 综合征病例

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-11-14 DOI:10.1016/j.genrep.2024.102089

Sunil Epuri, Dudi Nikitha, Kalyan Ram Uppaluri, Hima Jyothi Challa, Kalyani Palasamudram, Vrushabh Anil Nikhade, K. Sri Manjari

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引用次数: 0

摘要

一名曾被诊断为甲状腺功能障碍的妇女被发现患有高催乳素血症和偶发性高钙血症。进一步检查后诊断为甲状旁腺腺瘤。激素异常和多灶性甲状腺结节的独特组合无法用已知的MEN综合征（无家族史）来解释。我们报告了通过靶向基因检测发现的 CDKN1B（与 MEN4 综合征相关的基因）p.Val109Gly 杂合突变。该病例扩展了 MEN4 的表型谱，并强调了基因检测在诊断内分泌增生症综合征方面的作用。

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Unveiling a rare endocrine puzzle: A case of CDKN1B mutation-associated MEN4 syndrome

A woman with a prior diagnosis of thyroid dysfunction was found to have hyperprolactinemia and incidental hypercalcemia. Further investigation led to the diagnosis of a parathyroid adenoma. The unique constellation of hormonal abnormalities and multifocal thyroid nodules defied explanation by known MEN syndromes (no family history). We report the identification of a heterozygous p.Val109Gly mutation in CDKN1B, a gene associated with MEN4 syndrome, through targeted genetic testing. The presented case expands the phenotypic spectrum of MEN4 and highlights the utility of genetic testing in diagnosing syndromic forms of endocrine hyperplasias.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.