01
Nov
Potocki-Lupski Syndrome (PTLS)
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Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and... Read More
01
Nov
Chromosome 10p15.3 deletion and neurological symptoms
Chromosome 10p15.3 is the most distal segment of 10p. The deletions within this area are characterized by developmental delay, motor skill delay, speech disorders, brain abnormalities, and seizures. Two genes within this region – ZMYND11 and DIP2C – are commonly deleted due to this condition, and loss of these is... Read More
01
Nov
Chromosome 12q12 deletion – confirmation of an ARID2 gene defect
Van Paemel et al. “Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability”. American Journal of Medical Genetics, 2017, v. 173, 3104-3108. The ARID (AT rich interaction domain) group of genes belongs to a family known as the SWItch/Sucrose NonFermentable (SWI/SNF) complex involved in gene regulation and development. The ARID2... Read More
19
Oct
2q23.1 microdeletion – 3 families demonstrate significant variability of symptoms
Tadros S, Wang R, Waters JJ, et al. “Inherited 2q23.1 microdeletions involving the MBD5 locus”. Molecular Genetics and Genomics Medicine 2017, v. 5, 608-613. 2q23.1 microdeletion – or a deletion within the q23.1 region of chromosome 2 – is known to cause a number of symptoms, such as intellectual disability,... Read More
15
Oct
Deletions of the FOXP1 gene determine clinical manifestations in patients with chromosome 3p13 deletion
Meerschaut I, Rochefort D, Revençu N, et al. “FOXP1-related intellectual disability syndrome: a recognisable entity”. J. Med. Genet. 2017, v. 54, 613-623. Patients with proximal short arm deletions of chromosome 3 (3p13) show intellectual disability (ID), speech and language issues, neurodevelopmental delay, spasticity (increased muscle tone), contractures (shortening and hardening... Read More
