Al-Dosari Mohammed S, Al-Muhsen Saleh, Al-Jazaeri Ayman, Mayerle Julia, Zenker Martin, Alkuraya Fowzan S
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Med Genet A. 2008 Jul 15;146A(14):1875-9. doi: 10.1002/ajmg.a.32401.
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus. We report on an infant with classical JBS who also has unusually severe neonatal cholestatic liver disease that progressed to liver fibrosis and portal hypertension. Sequencing of UBR1 revealed a previously unreported homozygous missense mutation in a consensus splice acceptor site (IVS12-1G > A). This report is the first to document severe liver involvement in JBS and raises the possibility that this could be a rare but genuine association.
约翰森-布利兹综合征（JBS）是一种罕见的常染色体隐性疾病，其特征为具有特征性面容以及一系列其他特征，最显著的是外分泌性胰腺功能不全、少牙症、生长发育迟缓、听力丧失、智力障碍、头皮缺损、甲状腺功能减退和肛门闭锁。我们报告了一名患有典型JBS的婴儿，该婴儿还患有异常严重的新生儿胆汁淤积性肝病，并进展为肝纤维化和门静脉高压。对UBR1进行测序发现了一个先前未报道的纯合错义突变，位于共有剪接受体位点（IVS12-1G>A）。本报告首次记录了JBS患者出现严重肝脏受累的情况，并提出这可能是一种罕见但确实存在的关联。
