NEWS

#RareDiseaseDay #29BOSFacts

On the occasion of Rare Disease Day we published 29 #BOSFACTS two years ago. Annother year has past and these facts about Bohring-Opitz Syndrome are still up to date. But there are important news for the Bohring-Opitz Family: Research on Bohring-Opitz Syndrome are still going on and more medical articles about Bohring-Opitz Syndrome are published.…

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Year of AЯRE

We would like to share you the amazing journey of the AЯRE Foundation. ASXL Rare Research Endowment (AЯRE) Foundation was launched in April to support research that will increase our understanding of the ASXL genes and to improve the treatment of individuals with congenital ASXL mutations, and it has been quite a year! These are…

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Asxl1 loss effects lung maturation

An important step towards a better understanding of the mechanism of ASXL1 mutation and Bohring-Opitz syndrome! Little is known about the role of an ASXL1 mutation in the organ development. “Recent studies using Asxl1-null mouse models indicated a critical role for Asxl1 in development. Depending on the model, Asxl1 loss causes embryonic lethality and developmental…

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BOS Meeting Point

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…

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BOS Gen found in a boy and ExAC

Again 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…

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Pulmonary hypertension

A 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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Maternal Mosaicism

This new article by Emma Bedoukian and collegues present the first report of germline inheritance of Bohring-Opitz Syndrome. “[…] Most patients [affected with Bohring-Opitz Syndrome (BOS)] […] have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother.…

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