Hematologic and genetic characterization of an MYH9-related disorder in a Chinese family.

نویسندگان

  • Edmond S K Ma
  • Chris L P Wong
  • Tony W H Shek
  • S P Hui
چکیده

We describe a Chinese family with an MYH9-related disorder in which a novel mutation V1516L at exon 31 of the MYH9 gene was identified. To the best of our knowledge, this is the first reported Chinese family with MYH9 mutation and supports the pan-ethnic nature of the disorder.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Renal Failure Due to MYH9-Related Disorder (Macro-Thrombocytopenia): Peritoneal Dialysis as a First Choice Therapy and Kidney Transplant from Living Donor

MYH9-related disorders, previously distinguished in four syndromes (Epstein syndrome, Fechter syndrome, Sebastian syndrome, May-Hegglin anomaly) based on the combination of different clinical findings at the time of diagnosis; appear to be only one rare nosological entity (MYH9RD). It has been recognized that they are all phenotypic variants due to mutation in MYH9 gene (heterozygous pathogenic...

متن کامل

Myosin heavy chain-9-related disorders (MYH9-RD): a case report

Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impairment and presenile cataracts. A 44-year-old Caucasian man was initially thought to have Alport'...

متن کامل

Obsessive-compulsive disorder and related cultural issues in Iran: a Systematic Review

Cultural and environmental factors and genetic factors can lead to mental disorders and reduce mental health. Obsessive-compulsive disorder is a mental illness that can occur under the influence of cultural factors. Therefore, in the present study, cultural issues in Iranian society that affect obsessive-compulsive disorder have been studied. This study is a secondary study with a systematic re...

متن کامل

MYH9 gene polymorphisms may be associated with cerebrovascular blood flow in patients with type 2 diabetes.

Genetic factors play an important role in type 2 diabetes (T2D) complications. Alteration of cerebrovascular blood flow (CBF) is a direct result of cerebrovascular diseases. However, few studies have reported the role of genetics on CBF in patients with T2D. We investigated whether single-nucleotide polymorphisms (SNPs) in metabolic disease genes are associated with CBF in patients with T2D. CB...

متن کامل

Thrombin generation in two families with MYH9-related platelet disorder.

MYH9-related platelet disorders are inherited macrothrombocytopenias with additional clinical manifestations including renal failure, hearing loss, pre-senile cataract, and inclusion bodies in leucocytes that are present in different combinations. The MYH9 gene codes for the cytoplasmic contractile protein non-muscular myosin heavy chain IIA, present in several tissues. The bleeding tendency is...

متن کامل

ذخیره 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 نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 91 7  شماره 

صفحات  -

تاریخ انتشار 2006