Steady progress in the field of psychiatric genetics, generating new and fascinating insight into the genetic and phenotypic complexity of schizophrenia and other serious mental illnesses, have created an increased need of psychiatric genetic counseling. It is a crucial aspect of psychiatric clinical practice to ensure a balanced approach that takes into consideration genetic and environmental risk factors and ongoing education in this rapidly developing field is essential. Genetic counseling will be increasingly important to assist patients with schizophrenia and their families to make a meaningful informed decision about genetic testing. It will preempt unrealistic expectations, discrimination and stigma related to incomplete understanding of genetic test results in the psychiatric context.
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http://dx.doi.org/10.3389/fpsyt.2022.1014069 | DOI Listing |
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFNiger Med J
January 2025
Department of Obstetrics and Gynaecology, AIIMS, Bilaspur, Himachal Pradesh, India.
Autosomal hypophosphatemic rickets though a rare genetic disorder can lead to significant discomfort to the patient resulting in clinical deterioration and a poor quality of life. We describe a case of a 33-year-old woman G2P1001 at 6 weeks of gestation with complaints of myalgia and bony pains. Keeping her history of bony pains and fractures in mind, she was further evaluated.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFMol Cell Probes
January 2025
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Osteopetrosis is a group of genetically and clinically diverse inherited disorders characterized by an increase in bone density. The main known cause is an abnormality in the development or function of osteoclasts. Hence, the process of bone resorption is impaired, resulting in: 1- a reduction in bone marrow volume and, subsequently, a decrement in the hematopoietic capacity of bone marrow, which leads to anemia and compromised immunological function; 2- improper bone development, which leads to pressure on peripheral nerves, causing auditory, visual, and movement impairments; and 3- disturbance in the formation of bone microstructure that leads to susceptibility to bone fracture.
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