Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies

Background: Selenoprotein N-related myopathies (SEPN1-RMs) are a subset of congenital myopathies caused by mutations of Selenoprotein N gene (SELENON or SEPN1). Clinical phenotype is considered as highly consistent and little attention has been given to the extramuscular abnormalities.Methods: We reported clinical, histopathological, and genetic features of four Chinese patients with SEPN1-RM and performed literature review on delayed respiratory insufficiency and extramuscular involvement.Results: A total of four patients exhibited both the typical and atypical clinical features of SEPN1-RM. The classical manifestations included axial and limb girdle weakness, spinal rigidity, scoliosis, respiratory insufficiency, and multiminicore morphological lesions. However, high interindividual variability was noticed on disease severity, especially the onset of respiratory involvement. Two adult patients postponed respiratory insufficiency to the third decade of life, while two juvenile patients manifested early hypoventilation with puberty exacerbation. As atypical features, extramuscular involvement of weight gain, subcutaneous adipose tissue accumulation, intellectual disability, and mild cardiac changes were observed. Molecular findings revealed three novel mutations of SELENON such as c.1286_1288 del CCT, c.1078_1086dupGGCTACATA, and c.785 G>C. Ten cases with delayed respiratory insufficiency were identified from previous publications. A total of 18 studies described extramuscular abnormalities including joint contractures, alterations of body mass index (BMI), mild cardiac changes, and insulin resistance. Intellectual impairment was extremely rare.Conclusion: SEPN1-RM should be considered as a differential diagnosis in adult patients with delayed respiratory involvement. Extramuscular involvement such as body composition alterations deserves more clinical attention. The novel mutations of SELENON widened the genetic spectrum of patients with SEPN1-RM.

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The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis

BMC Neurology ◽

10.1186/s12883-015-0290-8 ◽

2015 ◽

Vol 15 (1) ◽

Cited By ~ 9

Author(s):

Xiaobing Li ◽

Sheng Yao ◽

Yining Xiang ◽

Xiaolei Zhang ◽

Xiangbing Wu ◽

...

Keyword(s):

Periodic Paralysis ◽

Chinese Patients ◽

Thyrotoxic Periodic Paralysis ◽

Mainland Chinese ◽

Genetic Features

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Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients

Eye ◽

10.1038/eye.2011.215 ◽

2011 ◽

Vol 25 (12) ◽

pp. 1581-1589 ◽

Cited By ~ 5

Author(s):

X Zhang ◽

Y Tong ◽

W Xu ◽

B Dong ◽

H Yang ◽

...

Keyword(s):

Chinese Patients ◽

Pax6 Gene ◽

Novel Mutations

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Association of BMI, body composition and outcomes in Chinese patients with metastatic renal cell carcinoma treated with immunotherapy: A retrospective, multicohort analysis.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.e16563 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. e16563-e16563

Author(s):

Jun Wang ◽

Yuanyuan Qu ◽

Wenhao Xu ◽

Chunping Yu ◽

Zhiling Zhang ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Overall Survival ◽

Body Composition ◽

Cell Carcinoma ◽

Renal Cell ◽

Normal Weight ◽

Chinese Patients ◽

Tissue Area ◽

Subcutaneous Adipose ◽

High Bmi

e16563 Association of BMI, body composition and outcomes in Chinese patients with metastatic renal cell carcinoma treated with immunotherapy: a retrospective, multicohort analysis. Background: Obesity (body-mass index [BMI] ≥30 kg/m) is associated with a higher risk of developing clear cell renal cell carcinoma (RCC) but, paradoxically, obesity is also associated with better outcome in renal cell carcinoma (RCC) patients treated with immunotherapy. Whether BMI associate outcomes in Chinese RCC patients treated with immunotherapy considering Asian population has a lower BMI? In this study, we aimed to investigate the relationship between BMI, body composition and outcomes of Chinese patients with RCC treated with immunotherapy. Methods: We evaluated clinical data of metastatic RCC patients treated with immunotherapy from five major centers in China. Despite using the Chinese standard, only 6 people met the obese standard (BMI ≥28 kg/m, as per WHO's BMI categories), so we divided the patients into high BMI gourps (BMI ≥24.0 kg/m), and normal weight groups (BMI 18.5-23·9 kg/m). We assessed overall survival, defined as the time from treatment initiation to the date of any-cause death or of censoring on the day of the last follow-up, in high BMI patients and in patients with a normal weight. We also investigative the relationship between body composition (skeletal muscle index (SMI = skeletal muscle area/height2), skeletal muscle density (SMD), and subcutaneous adipose distribution index (SADI = subcutaneous adipose tissue area / subcutaneous adipose tissue area + visceral adipose tissue area) of each patient at the third lumbar vertebrae) and overall survival using CT or MRI scan at the treatment initiation. Results: Out of a total of 222 patients, 203 had evaluable CT or MRI radiographs, pretreatment BMI measurements, and overall survival data for analyses, and we excluded 4 (1.7%) underwetight patients, leaving a final cohort of 199 patients from this study for our analyses. There were 79 (39.7%) high BMI patients and 120 (65.3%) normal weight patients. There was no difference in overall survival between the high BMI and normal weight groups (HR:1.36, CI 0.83-2.21). In addition, SMI and SMD were not associated with outcome of patients. Interestingly, although there was no statistical difference, subcutaneous fat was associated with better outcomes, while visceral fat was associated with poor outcomes. Thus, the combination of the two indicators, SADI, showed a significant prognostic correlation after adjustment for International Metastatic RCC Database risk score (aHR:0.314, CI 0.19-0.51). Conclusions: BMI is not a good predictor of the outcome of immunotherapy in Chinese patients with RCC. Evaluation of body composition may be a better tool for predicting prognosis in RCC patients treated with immunotherapy.

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Three novel mutations of theATP2A2gene in Chinese patients with Darier disease

Australasian Journal of Dermatology ◽

10.1111/ajd.12957 ◽

2018 ◽

Vol 60 (2) ◽

Author(s):

Qing Zhao ◽

Fanghui Fu ◽

Xi'an Fu ◽

Zhenzhen Wang ◽

Hong Liu ◽

...

Keyword(s):

Chinese Patients ◽

Novel Mutations ◽

Darier Disease

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Identification of two novel mutations in Chinese patients with Dyschromatosis symmetrica hereditaria

Archives of Dermatological Research ◽

10.1007/s00403-005-0595-3 ◽

2005 ◽

Vol 297 (5) ◽

pp. 196-200 ◽

Cited By ~ 14

Author(s):

Ming Li ◽

Chengrang Li ◽

Haikang Hua ◽

Wenyuan Zhu ◽

Yan Lu ◽

...

Keyword(s):

Chinese Patients ◽

Novel Mutations ◽

Dyschromatosis Symmetrica Hereditaria

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Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis

Journal of Child Neurology ◽

10.1177/0883073818789024 ◽

2018 ◽

Vol 33 (13) ◽

pp. 837-850 ◽

Cited By ~ 2

Author(s):

Lv Ge ◽

Han Yun Li ◽

Yuan Hai ◽

Liu Min ◽

Li Xing ◽

...

Keyword(s):

Age Of Onset ◽

Neuronal Ceroid Lipofuscinosis ◽

Hereditary Disease ◽

Chinese Patients ◽

Missense Mutations ◽

Novel Mutations ◽

Neuronal Protein ◽

Ceroid Lipofuscinosis ◽

Visual Problems ◽

Homozygous Mutations

Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal ceroid lipofuscinosis. Here we report 3 patients from 2 families diagnosed with CLN5 neuronal ceroid lipofuscinosis. Whole genome sequencing of DNAs from 3 patients and their families revealed 3 novel homozygous mutations, including 1 deletion CLN5.c718 719delAT and 2 missense mutations c.1082T>C and c.623G>A. We reviewed 278 papers about neuronal ceroid lipofuscinosis resulting from CLN5 mutations and compared Chinese cases with 27 European and American cases. The overall age of onset of European and American patients occur mainly at 3 to 6 years (66%, 18/27), 100% (27/27) of patients had psychomotor regression, 99% (26/27) patients presented vision decline, and 70% (19/27) of patients suffered seizures. In China, the age of onset in 3 patients was 5 years, but for 1 patient it was at 17 months. Four Chinese patients presented psychomotor deterioration and seizures; only 1 had visual problems.

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