样本编号	SAMC3326175
外部数据库编号	GSA-Human: HRS1038888
样品名称	F1_proband
样本标题	CCND2 mutation
样品类型	Human sample
物种名称	Homo sapiens
描述信息	In this study, we present a case of a child who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family.
样本属性	*该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA006571数据获取。
发布日期	2024-01-25
项目编号	PRJCA023125
提交者	Liangliang Fan (swfanliangliang@csu.edu.cn)
提交单位	Central South University
提交日期	2024-01-26

样本包含数据信息

资源名称	描述
GSA-Human (1)	-
HRA006571 (Controlled Access)	we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole exome sequencing and Sanger sequencing revealed a de novo nonsense mutation (NM_001759.3: c.829C>T/p.Gln277X) in the CCND2 gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH.

资源名称

描述

GSA-Human (1)

HRA006571 (Controlled Access)

we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole exome sequencing and Sanger sequencing revealed a de novo nonsense mutation (NM_001759.3: c.829C>T/p.Gln277X) in the CCND2 gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH.