NGDC - GSA for Human

HRA006571

HRA006571.xlsx

Title:

CCND2 mutation

Release date:

2024-01-25

Description:

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.

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA023125

Study type:

Disease Study

Disease name:

genetic disorder

Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC NO.:

HDAC001721

DAC name:

Fan

Contact person:

Fan Liangliang

Email:

swfanliangliang@csu.edu.cn

Description:

Fan lab

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