De Novo Microdeletion Spanning YWHAE and CRK in an Individual with Intellectual Disability and Stunted Growth

In this report, we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of a portion of 17p13.3 at least 195 Kb in size, not present in either parent. This area of chromosome 17 is associated with Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS), but these conditions are related predominantly to PAFAH1B1, which is not included in the patient’s deletion

Intellectual Disability Related to De Novo Germline Loss of the Distal End of the P-Arm of Chromosome 17: A Case Report

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient. Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv). Results: Karyotype was found to be normal, but CGH revealed a deletion of the tail end of the p-arm of chromosome 17, 17p13.3. At least 134 genes are present in this genomic location, and 35 of them are uncharacterized. Both Miller-Dieker Syndrome (MDS) and Isolated Lissencephaly Sequence (ILS) are characterized by a smooth cerebral cortex and intellectual disability, but the patient’s symptoms more closely mirror MDS because muscle tone was normal. The patient was significantly shorter than peers, but growth hormone therapy over the course of several years allowed the patient to reach a normal height, albeit shorter than her siblings and parents. The list of genes deleted will be investigated to determine if a single gene is likely responsible for the phenotype. Conclusions: Here we present a patient with intellectual disability and a previously uncharacterized deletion on chromosome 17. Similar, though not identical conditions have been previously reported, but not well characterized indicating that the present patient could possibly have one of these conditions. Further directions include investigation of the deleted genes to determine a probable cause for the symptoms exhibited

Neurocognitive Considerations and Impacts in Chronic Migraines

Migraine, characterized by moderate-to-severe headache, may arise from neurological, psychological, orthopedic, metabolic, or endocrine origins. Pain associated with migraine, while commonly cited as the primary patient concern, only represents a small portion of short- and long-term effects caused by the condition. Many presenting cases include neuromuscular dysfunction, increased neuronal firing, inflammation, and cortical spreading depression. These effects can induce multiple symptoms such as pain, aura, brain fog, confusion, hangover, multiple hypersensitivities, and decreased memory capacity. These effects and symptoms can lead to neurocognitive and neuropsychological deficiencies in many patients. This study aims to investigate the relationship between migraines and neurocognitive function