A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation
نویسندگان
چکیده
منابع مشابه
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
متن کاملSuccinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic ...
متن کاملDouble nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease.
Alport’s syndrome, a renal disorder with inherited transmission, is characterized by ultrastructural changes of glomerular basement membrane and basement membranes elsewhere. A progressive haematuric nephritis, sensorineural hearing loss and familial occurrence in successive generations are typical of this disorder. X-linked dominant inheritance is quite frequent (85–90% of the families) [1]. A...
متن کاملNovel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case
BACKGROUND Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficien...
متن کاملMYH9 Mutation, the Hidden Face of Diverse Disease Spectrum - from Renal Perspective. Renal Perspective of MYH9 Mutation
MYH9 gene mutation results in a spectrum of diseases, such as May -Heglin anomaly and Epstein syndrome, depending upon the type of isoforms involved [1]. This mutation is inherited as an autosomal dominant entity and the gene encodes for non-muscle myosin heavy chain IIA (NMMHC-IIA) which is a part of myosin superfamily. The exact incidence of this disease in different populations is yet to be ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Hematology
سال: 2019
ISSN: 1607-8454
DOI: 10.1080/16078454.2019.1706808