Publications by authors named "V Malan"
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
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- Cerebellar atrophy and hypoplasia, often detected through MRI in children with ataxia and developmental issues, are linked to leukodystrophies, which can affect brain myelin.
- A recent study highlights two cases involving variants in the LSM7 gene: one child with a confirmed diagnosis and another with a presumed variant, suggesting LSM7's critical role in these conditions.
- Our findings expand this understanding by presenting a new patient with similar symptoms and genetic variants in LSM7, reinforcing its association with neurodevelopmental disorders involving leukodystrophy and cerebellar atrophy.
Article Synopsis
- * The study presented data on five new patients and analyzed previous reports, identifying critical gene regions within 20q that may be responsible for observed syndromic features, which include two main regions containing disease-related genes.
- * Researchers suggest that GDF5 is the main gene associated with the syndrome linked to 20q11.2 deletions, while TOP1 may play a role in the second critical region at 20q12, noting the need for further
Article Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
Article Synopsis
- The case study reports a rare occurrence of uniparental disomy associated with a supernumerary marker chromosome 6 in a patient, leading to partial trisomy 6p12.3p11.1.
- The patient experienced growth retardation, macroglossia, developmental delays, and diabetes conditions likely linked to the genetic variations.
- More research and clinical examinations are required to understand the implications of partial trisomy 6p for effective genetic counseling and to consider uniparental disomy in early diagnoses involving marker chromosomes.