The neurexin gene family, consisting of NRXN1, NRXN2 and NRXN3 are presynaptic cell adhesion molecules receptors that needed in the development differentiation synaptic function neural development. When microdeletions loss variations expressed, they can encode proteins result disruptions disrupted neurotransmission, leading to a higher risk for developmental disorders neuropsychiatric condition...

Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the histopathological findings. This diagnosis alerts especially about the possibility of associated neoplasms. Treatment involves topical keratolytic agent...

Hereditary coproporphyria, a form of acute hepatic porphyria, is a rare Mendelian autosomal dominant inherited condition with incomplete penetrance. The acute attack is usually followed by complete remission, but death may occur. Latent cases are recognised, and the characteristic neurovisceral symptoms and signs are shared by many other conditions. Acute porphyria should be considered in the d...

Introduction Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the fingers and toes, periostosis of long bones, pain and swelling of the joints, and, in more advanced instances, pachydermia. The syndrome is often secondary to cardio-pulmonary or intestinal diseases.The primary form, known as pachydermoperiostosis, is a rare genetic disorder with autosomal dominant (with i...

Parkinson's disease (PD), the second most frequent neurodegenerative disease, fits within the wide range of complex polygenic disorders influenced by both genetic and environmental factors. In fact, just around 10% of PD cases are familial, caused by monogenic forms which sometimes exhibit incomplete penetrance. The vast majority of PD cases are sporadic and often present with varied clinical p...

Specimens with white head spots are present at low frequency in the natural populations of South American water rat (Nectomys squamipes) and absent in the sibling species Nectomys rattus. We analyzed the pattern of inheritance of the phenotype using complex segregation analysis of pedigrees of a captive-bred population of N. squamipes. We found that the inheritance of the white head spot in thi...

One hundred manic patients who were treated with lithium were studied to find out the possibility of genetic variations in response to lithium. Along with pedigree study, test of colour blindness and ABO blood grouping were used as genetic markers. The study supports the transmission by autosomal dominance with incomplete penetrance. There is no difference between the responders and non-respond...

Dopa-responsive dystonia (DRD) is an autosomal dominant neurologic disorder characterized by incomplete penetrance and high variability of its phenotypic expression. The usual phenotype is defined by early-onset isolated dystonia, predominant in the lower limb, with marked diurnal fluctuations and a dramatic and sustained response to low doses of L-DOPA. We report 2 members of the same family (...

A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode...