A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome.
نویسندگان
چکیده
A Novel Alu-Mediated Xq28 Microdeletion Ablates TAZ and Partially Deletes DNL1L in a Patient With Barth Syndrome Harinder R. Singh, Zhao Yang, Saad Siddiqui, Liana S. Pe~na, Brandy H. Westerfield, Yuxin Fan, Jeffrey A. Towbin, and Matteo Vatta* Children’s Hospital of Michigan, Division of Cardiology, The Carman and Ann Adams, Department of Pediatrics, Wayne State University School of Medicine, Detroit, Michigan Department of Pediatrics (Cardiology) and John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas
منابع مشابه
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardiolipin deficiency. We report a 13-month-old boy with BTHS who had a novel de novo mutation in the ...
متن کاملA novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome
Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 ...
متن کاملMouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis
Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation. Mutation in the Taz gene in Xq28 is thought to be responsible for the condition, by altering mitochondrial lipid content and mitochondrial fun...
متن کاملA Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection
A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle, neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous...
متن کاملNovel mutations in the TAZ gene in patients with Barth syndrome.
Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-methylglutaconic aciduria. In this paper, we present clinical, biochemical and molecular data of the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 149A 5 شماره
صفحات -
تاریخ انتشار 2009