Responsible Gene for Bohring-Opitz Syndrome
Having support and community resources can help increase your confidence in managing Bohring-Opitz-Syndrome (BOS), enhance quality of life, and assist in meeting the needs of other family members. Parenting is often challenging, and parenting a child with a chronic condition like BOS can add additional stress to the day-to-day challenges. It’s important to remember you’re not…
Read MoreMore information about the first Research Symposium about all ASXL Families you can find on the website of the AЯRE Foundation. Register here:
Read MoreAgain the recent publication by Urreizti et al. shows that pathogenic gene variants are part in a reference database should be taken into account. In order to assess genetic variants, reference population databases such as the Exome Aggregation Consortium (ExAC) database are part of researches. It is assumed that in this population database pathogenic gene…
Read MoreA new case report at Kagoshima City Hospital, Kagoshima, Japan describes in a newborn with Bohring-Opitz Syndrome Pulmonary Hypertension (PH). Children with Pulmonary (= lungs) hypertension (= high blood pressure) have small passageways, blood vessels, in the lungs and because these passageways are so narrow, there is a very high blood pressure in the pulmonary…
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Bianca Russell, Wen-Hann Tan and John M Graham have published a new comprehensive overview about Bohring-Opitz Syndrome (BOS) in GeneReviews. After the publication of the Unique leaflet by Joanna Kennedy (2017), the “Clinical management of patients with ASXL1 mutation and Bohring-Opitz Syndrome […]” by Bianca Russell and colleagues (2015) and previously published article about BOS…
Read MoreWe have learned that germline mutations of human ASXL1 is the cause of Bohring-Opitz syndrome (BOS). Germline means its a novo ASXL1 mutation, the gene mutates at conception, creating a developmental disorder that leads to BOS. Patients with somatic ASXL1 mutation (the mutation formed during later life) have an increased risk of myelodysplasia (MDS), myeloproliferative…
Read MoreResearchers have expanded the clinical spectrum of KLHL7 […] by describing a syndrome with features overlapping CS/CISS1 (Crisponi syndrome/cold-induced sweating syndrome type 1) and Bohring-Opitz Syndrome (BOS). At six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients…
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Our best chance to help individuals who are affected by Bohring-Opitz Syndrome (BOS) is a registry that will collect important information about raising a child with BOS and their medical history and build a resource for a better understanding of this rare disease for patients, caregivers as well for medical professionals. The amount knowledge started…
Read MoreA new publication in the AACR (American Association for Cancer Research) by Jennifer M. Kalish and colleagues about uniform tumor screening recommendations for rare syndromes with increased risk for Wilms tumor, hepatoblastoma and other embryonal tumors like Bohring-Opitz Syndrome. “In the 43 cases reported by Russell and colleagues (2015), two patients developed WT and one…
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Bohring-Opitz Syndrome/ASXL1 