Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism,Molecular Genetics & Genomic Medicine

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Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-01-20 , DOI: 10.1002/mgg3.2144
Yangfan Fei ₁ , Lv Liu ₁ , Lixia Wu ₁ , Ou Wang ₂ , Xiaoping Xing ₂ , Aiping Li ₁ , Lingyi Huang ₁

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Pseudohypoparathyroidism (PHP) is a series of diseases related to pathological changes and neurocognitive and endocrine abnormalities, mainly due to the GNAS mutation on chromosome 20q13.2, which weakens receptor-mediated hormone signal transduction. Considering its complex genetic and epigenetic characteristics, GNAS may produce complex clinical phenotypes in families or sporadic cases. This study presented a case of familial PHP caused by a deletion mutation in the 20q13.2 region.

中文翻译：

全基因组测序揭示了家族性假性甲状旁腺功能减退症中跨越 GNAS 的新型远程缺失突变

假性甲状旁腺功能减退症(PHP)是一系列与病理改变和神经认知及内分泌异常有关的疾病，主要是由于染色体20q13.2上的GNAS突变，使受体介导的激素信号转导减弱。考虑到其复杂的遗传和表观遗传特征，GNAS可能在家族或散发病例中产生复杂的临床表型。本研究介绍了一例由 20q13.2 区域的缺失突变引起的家族性 PHP。

更新日期：2023-01-20

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