Gene mutations and clinical phenotypes in Chinese children with Blau syndrome

Abstract

The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis. Cardiac involvement was also found in Blau syndrome. In addition to nerve deafness, renal involvement, osteochondroma and central nervous system involvement were also found in our patients. Therefore, Chinese children with Blau syndrome have unique gene mutations and complicated clinical phenotypes. Pathologic examination and CARD15 mutation testing should be considered for diagnosis as early as possible for suspected patients.

eRAM: encyclopedia of rare disease annotations for precision medicine

“…Under this policy, all de-identified clinical data with standardized phenotypes or manifestation terms will be deposited into eRAM. For example, all the relevant data of rare diseases published in the 2017 July special issue of Science China Life Sciences have been deposited into eRAM ( 44 – 55 ). In the future, we will continue to collect new rare disease cases, phenotypes and genotypes from published literature and other resources; meanwhile, we will standardize the electronic medical records for rare diseases from Beijing Children's Hospital and record those de-identified clinical data into eRAM.…”

PedAM: a database for Pediatric Disease Annotation and Medicine

“…The database PedAM is designated as the data repository to host all the pediatrics related clinical data and research results published on both journals. For example, in the recently published thematic issue of rare pediatric diseases by Science China Life Sciences journal, all patient de-identified clinical data and molecular results have been stored in our PedAM ( 43 – 52 ). We believe that with more standardized clinical data and information accumulated in the PedAM, this platform will help medical professionals in this community to gain more knowledge, and make more accurate diagnoses for pediatric diseases.…”

Genetic Basis of Myocarditis: Myth or Reality?

“…The original clinical manifestations were described as a triad constituted by granulomatous dermatitis, arthritis, and uveitis [124]. Additional manifestations include erythema nodosum, fever, sialadenitis, lymphadenopathy, leukocytoclastic vasculitis, transient neuropathies, granulomatous glomerular and interstitial nephritis, interstitial lung disease, arterial hypertension, pulmonary hypertension, pericarditis, pulmonary embolism, hepatic granulomas, splenic involvement, and chronic renal failure [132][133][134][135][136][137][138].…”

“…Cardiac involvement is rare [136][137][138][139][140]. The pathologic hallmark is the non-caseating epithelioid cell Blau granuloma.…”