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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

ABSTRACT: BACKGROUND:Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. METHODS:We retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D. RESULTS:The patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations. CONCLUSIONS:This is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.

SUBMITTER: Liu S

PROVIDER: S-EPMC4630853 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature

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Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Liu Shuang S Hong Xiafei X Shen Cheng C Shi Quan Q Wang Jian J Xiong Feng F Qiu Zhengqing Z

BMC medical genetics 20150421

<h4>Background</h4>Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.<h4>Methods</h4>We retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation ...[more]

PMID: 25896430

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Project description:BackgroundCholesterol embolization syndrome (CES) is an uncommon but well-known cause of renal failure in native kidneys, but little is known about CES in kidney transplant recipients. The aim of this study was to determine the incidence, clinical characteristics, histopathology, and prognosis of CES after kidney transplantation.MethodsCES cases in both transplanted and native kidneys (control group) were identified by searching the databases of the divisions of Nephrology and Pathology of our institution. Clinical data were retrospectively collected. Biopsies were classified according to the latest Banff 2019 Update. Second, a systematic literature search was performed (December 01, 2020) of Ovid MEDLINE, EMBASE, the Cochrane Central Register of controlled trials, Google Scholar, and Web of Science.ResultsCES was observed in for-cause biopsies of 11 out of 2350 (0.47%) kidney transplant recipients transplanted between January 1, 2006, and December 31, 2018 (0.0009 cases per person-year). All patients had ≥1 cardiovascular risk factor, and 9 donors were expanded criteria donors. Graft loss occurred in 27.3% of the patients diagnosed with CES. Eight transplant biopsies with CES were also classified as biopsy-proven acute rejection. Transplant biopsies showed signs of inflammation (arteritis, n = 7; interstitial inflammation, n = 5; tubulitis, n = 7). One patient with CES in a native kidney was identified. The biopsy of the native kidney only showed arteritis and classified as an isolated "v" lesion. The literature search resulted in 188 unique articles of which 20 were included. A total of 47 cases of CES after kidney transplantation was reported. Cholesterol emboli were found in <1% of all kidney transplant biopsies. In 57.8% of the kidney transplant biopsies with CES described in literature, concomitant inflammation was present.ConclusionsCES is an uncommon cause of kidney transplant failure, although the incidence of CES may be underestimated. CES may mimic rejection as it can be accompanied by arteritis.

Dataset Information

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

Publications

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

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