Novel HeterogenousCHS1Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
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چکیده
منابع مشابه
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. The...
متن کاملpatient with Chediak-Higashi syndrome
Accepted for publication 8 November 1994 Abstract Aims-To determine whether neutrophil elastase and cathepsin G are expressed, at transcriptional or translational levels, in the bone marrow from a patient with Chediak-Higashi syndrome. Methods-Blood neutrophils were isolated from three patients with Chediak-Higashi disease and bone marrow was collected from one. Cell lysates were analysed for n...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملTwo Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, immunodeficiency, coagulopathy and late-onset, progressive neurological dysfunction. It also has an "accelerated phase" characterized by hemophagocytic lymphohistiocytosis (HLH). The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affec...
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ژورنال
عنوان ژورنال: Case Reports in Medicine
سال: 2010
ISSN: 1687-9627,1687-9635
DOI: 10.1155/2010/464671