Cantu syndrome is a very rare autosomal dominant disorder characterized by generalized congenital. Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the abcc9 and kcnj8 genes, which result in gain of function of the sur2 or kir6. Haploinsufficiency of rai1 results in smithmagenis syndrome sms, a disorder characterized by intellectual disability, multiple congenital anomalies, obesity, neurobehavioral abnormalities, and a disrupted circadian sleepwake pattern. The journal of pediatrics vol 73, issue 1, pages a1a76. An internet search quickly led them to washington university for treatment. Congenital heart defects are the most common type of birth defect. Novel mutation in abbc9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase rtkpi3kakt pathway, which results in an increased expression of the insulin receptor. Cantu syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia. November 2015 volume 12, issue 11, p22072366, e7e140. Cantu syndrome was first recognized in 1982 by doctor cantu, working in mexico.
Shortterm followup of a brazilian patient with cantu syndrome. The cardinal features of noonan syndrome include unusual facies ie, hypertelorism, downslanting eyes, webbed neck, congenital heart disease, short stature, and chest deformity. We evaluated 10 patients with genetically confirmed cantu syndrome. Abcc9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body. Cantu syndrome hypertrichosis, osteochondrodysplasia, cardiomegaly is a rare condition, previously reported in patients.
Clinical, electrophysiologic, and treatment findings in 184 patients author response julian benitoleon, anhar hassan, angela domingosantos, j. View the article pdf and any associated supplements and figures for a period of 48. Letters to the editor angelmans syndrome, abnormality of 15qll, and imprinting pembrey et al and fryns et a12 have reported transmission of pericentric inversions of chromosome 15 inv15 pllql3 from phenotypically normal mothers to children who have angelmans syndrome. It is also known as hirsutismosteochondrodysplasiacardiomegaly. All adult patients, and pediatric patients who were able to cooperate and complete the studies, underwent neuroimaging, including vascular imaging. In the clinical practice article on concussion by ropper and gorson jan. The syndrome was first described in 1982 by dr cantu. Complex neurodevelopmental disorders need multidisciplinary treatment approaches for optimal care. So far less than 20 cases have been described in literature. Enable javascript to view the expandcollapse boxes. These small changes in the genetic code affect the way the gene functions. Cantu syndrome occurs when one of a persons two copies of either of these genes carries a specific variant in the gene sequence.
Consensus statement on concussion in sport the 3rd international conference on concussion, zurich, november 2008. Department of dermatology, the jikei university school of medicine, tokyo, japan. So far, most studies have relied on broad overexpression of transgenes harboring patientderived mutations or. Novel mutation in abbc9 gene associated with congenital. Treatment of scoliosis with bracing andor surgery as needed. Some points regarding anesthesia for patients with. Full text novel mutation in abbc9 gene associated with. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. These channels couple the metabolic state of the cell to membrane excitability and play a key role in physiological processes such as insulin secretion in the pancreas, protection of cardiac muscle during ischemia and hypoxic vasodilation of arterial smooth muscle cells. Orphanet journal of rare diseases rare neurological diseases.
Cantu, md john leddy, md barry levin, md katelynn cataldo, np. Louis childrens hospital, grange and singh, professor in the division of pediatric cardiology, were treating a family with multiple cases of cantu syndrome. Comprehensive genetic characteristics of dystrophinopathies in china. Neurologic and neuroimaging manifestations of cantu syndrome. Expert opinion and controversies in sports and musculoskeletal medicine.
Cantu syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the abcc9 gene. In november 20, analysis of noahs dna finally gave them a diagnosis. Dystrophinopathies are a set of severe and incurable xlinked neuromuscular disorders caused by mutations in the dystrophin gene dmd. Jcm free fulltext the genetics of pituitary adenomas. Alternatively you can send us your details, with your consent for us to register you as a member and. The features of the disorder vary among affected individuals. People with cantu syndrome have thick scalp hair that extends onto the forehead and grows down onto the cheeks.
Neuropsychological consequences of boxing and recommendations. Oct 02, 2014 cantu syndrome and the related disorders acromegaloid facial appearance afa and hypertrichosis and acromegaloid facial features haff are characterized by congenital hypertrichosis. We analysed postmortem brains obtained from a cohort of 85 subjects with histories of repetitive mild traumatic brain injury and found evidence of chronic traumatic encephalopathy in 68 subjects. Cantu syndrome is a rare congenital disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism 1,2. One of the patients had pulmonary hypertension of unknown cause which was responsive to steroid therapy. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly.
Recent reports indicate that such mutations can increase channel activity by multiple molecular mechanisms. Neel gave the only invited talk at the first meeting of the american society of human genetics in september 1948, and his work was published as the second paper in the journal ajhg 1, 1936, 1949. The two parts, physiology science and pathophysiology clinical disorders, are complementary and annotated so that. A novel mutation in the kcnj8 gene encoding the kir6.
The zebrafish danio rerio has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development. The risk of a first time concussion varies to some degree, but is somewhere between 510% of athletes per year depending on the sport in question macciocchi, 2006. I read with great interest the article by kies et al. Chronic traumatic encephalopathy is a progressive tauopathy that occurs as a consequence of repetitive mild traumatic brain injury. These keywords were added by machine and not by the authors. Cantu syndrome is a rare disorder characterized by congenital hypertrichosis. Four children have been described and we now present details of a further three. The most comprehensive and integrated book on pigmentation the pigmentary system, second edition, gathers into one convenient, allinclusive volume a wealth of information about the science of pigmentation and all the common and rare clinical disorders that affect skin color. The use of genetically modified zebrafish has also allowed identification of new putative therapeutic drugs. This syndrome is also known as hypertrichotic osteochondrodysplasia. This process is experimental and the keywords may be updated as the learning algorithm improves. The clin it seems to us that you have your javascript disabled on your browser. They can disrupt the normal flow of blood through the heart.
Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. The genetic landscape of pituitary adenomas pas is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. A controversial term first described by saunders and harbaugh1 in 1984, second impact syndrome sis consists of two events. Congenital heart disease congenital heart defects medlineplus. Anesthesia for patients with congenital long qt syndrome. Jcm free fulltext the genetics of pituitary adenomas html. A salient neurologic history and examination was obtained. Please tick this box if you are happy for us to contact you to get you registered and tell you how we can support you. Mutations in another gene has also been associated with this disorder.
Cantu syndrome genetic and rare diseases information. Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Aortic and pulmonary artery dilatation in cantu syndrome. The complex disorder cantu syndrome cs arises from gainoffunction mutations in either kcnj8 or abcc9, the genes encoding the kir6.
Cantu syndromeassociated sur2 abcc9 mutations in distinct structural domains result in katp channel gainoffunction by differential mechanisms. Cantu syndrome omim 239850 is a rare autosomal dominant disorder characterized by congenital hypertrichosis, distinctive facial appearance, osteochondrodysplasia and cardiac features. A salient neurologic history and examination was obtained for all. Cantu syndrome associated with ovarian agenesis fulltext. Jan 01, 2010 cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. Cantu syndromeassociated sur2 abcc9 mutations in distinct. To describe the neurologic and neuroimaging manifestations associated with cantu syndrome. Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a condition.
Mccunealbrights syndrome following adrenalectomy for cushings syndrome in infancy. Effective crisprcas9based nucleotide editing in zebrafish. A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil kentaro ohko kimiko nakajima. Cantu syndrome is a rare condition characterized by excess hair growth hypertrichosis, a distinctive facial appearance, heart defects, and several other abnormalities. Computational identification of novel kir6 channel inhibitors. Fragile x syndrome fxs is an xlinked disorder and the most common inherited cause of intellectual disability. A congenital heart defect is a problem with the structure of the heart. Cantu syndrome is a rare genetic condition which has been reported in the medical literature in less than 50 people. Igf1 269 gl increased from 51 gl pretreatment with persistent mildly. Shortterm followup of a brazilian patient with cantu.
To date 50 cases have been reported in the literature. The gene is located on short arm of chromosome 12 12p12. Aortic and pulmonary artery dilatation in cantu syndrome expanding the phenotype. Cantu syndrome genetic and rare diseases information center.
Harakalova 2012 and kcnj8 cooper 2014 cause cantu syndrome. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Although permanent and irreversible neurologic dysfunction does not occur in the majority of participants, an association has been reported between the number of bouts fought and the development of neurologic, psychiatric, or histopathological signs and. Neel was twice a member of the societys board of directors, was a member of the national academy of sciences, and won the lasker and allan. It was not until 1949 that the term employed today, chronic traumatic encephalopathy cte, was cemented as the medical diagnosis though brie.
Cantu syndrome is a rare genetic disorder caused by pathogenic variants in the. Cantu syndrome is a rare genetic syndrome which arises due to missense mutations in abcc9 or kcnj8, resulting in a gainoffunction of the widely expressed k atp channel. The two parts, physiology science and pathophysiology clinical disorders, are complementary and annotated so. Defects in aip mutated in familial isolated pituitary adenoma syndrome or fipa, men1 coding for menin, mutated in multiple.
Cantu syndrome is an autosomal dominant disorder, first described by cantu in 1982, that is characterized by congenital hypertrichosis, characteristic facial anomalies and cardiomegaly. Cantu syndrome is an autosomal dominantsporadic disorder with mutations in. Boxing has held appeal for many athletes and audiences for centuries, and injuries have been part of boxing since its inception. It is associated with a wide array of phenotypic characteristics, the most common being hypertrichosis, cardiac and skeletal anomalies, and distinctive coarse facial features. Cantu syndrome was first recognized in 1982 by doctor cantu, working in mexico scurr 2011. Cantu syndrome occurs when one copy of either of these genes carries a specific change, known as a variant, in the gene sequence. March 2020 this month restoring antitumor immune response in. Yearly echocardiogram and electrocardiogram to monitor cardiac. Typically, it involves an athlete suffering postconcussive symptoms.
Recent genetic analysis has revealed that the majority of cs patients carry a missense mutation in abcc9, which codes for the sulfonylurea receptor sur2. Letter to the editor aortic and pulmonary artery dilatation in cantu syndrome. For seven years, randall and rachel lamfers struggled to get a diagnosis for their son, noah, who was born prematurely, had problems with pulmonary hypertension and needed a breathing tube. Congenital hypertrichosis, osteochondrodysplasia, and. She also had unusual, deep plantar creases, not reported previously in cantu syndrome.
Cantu syndrome cs is a rare congenital systemic disease characterized by congenital hypertrichosis. Cantu concussion center are proud to present 2nd annual concussion diagnosis and management active treatment using a care team approach a concussion seminar for professionals providing care to patients who suffer concussions. Volume 12, issue 11 pages a1a24, e7e140, 22072366 november 2015. Epidemiology to date, fewer than 30 cases have been reported. To the best of our knowledge this is the first report of cantu syndrome from. We report on two additional patients with this disorder.
646 594 566 1237 1087 307 88 1329 501 1537 1431 1412 1518 1664 1072 584 1426 22 367 6 491 516 1010 694 815 824 1181 689 937 537