Publications by authors named "Ruihua Wan"
[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2024
Article Synopsis
- The study investigates the genetic foundations of two children displaying psychomotor developmental delays and facial features indicative of Coffin-Siris syndrome (CSS) at a Chinese military hospital.
- Genetic testing, including whole exome sequencing and copy number variation sequencing, was conducted on the children and their family members, revealing significant pathogenic variants of the ARID1B gene in both cases.
- The findings confirmed the diagnosis of CSS in both children, highlighting a previously unreported genetic variant in one child and a known variant affecting gene splicing in the other.
Luscan-Lumish syndrome is characterized by macrocephaly, postnatal overgrowth, intellectual disability (ID), developmental delay (DD), which is caused by heterozygous (SET domain containing 2) mutations. The incidence of Luscan-Lumish syndrome is unclear. The study was conducted to provide a novel pathogenic variant causing atypical Luscan-Lumish syndrome and review all the published mutations and corresponding symptoms, comprehensively understanding the phenotypes and genotypes of mutations.
View Article and Find Full Text PDFCobalamin C (cblC) disease and Mowat-Wilson syndrome (MWS) are rare hereditary diseases. To date, there have been no reports of people suffering from these two genetic diseases, or whether there is any correlation between the two diseases. We reported a 2-year-old girl with both cblC disease and MWS.
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