Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of s...Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of symptomatic POP in China is 9.56%according to a cross-sectional study involving 54,000 adult women in six provinces in the mainland of China (unpublished data). The etiology of this disorder is multifactorial, including race, age, body mass index(BMI), parity and menopause (1)The loss of the integrity of vaginal connective tissue has been demonstrated to weaken the pelvic floor support and promote the development of POP.展开更多
Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB...Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB,and eight variants including a novel nonsense variant(c.47G>A,p.W16*)in LAMA3,a known recurrent variant(c.74C>T,p.P25L)in KRT5,2 novel(c.2531T>A,p.V844E;c.6811_6814del,p.R2271fs)and 4 known(c.6187C>T,p.R2063W;c.7097G>A,p.G2366D;c.8569G>T,p.E2857*;c.3625_3635del,p.S1209fs)variants in COL7A1 were detected.Notably,this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay.Our study expands the mutation spectra of Chinese patients with EB.展开更多
基金supported by the Chinese Academy of Medical Sciences Initiative for Innovative Medicine (CAMS-2017-I2M-1002)
文摘Pelvic organ prolapse (POP) is the descent of the pelvic organs,including bladder, uterus, vagina and rectum, resulting in pelvic discomfort, urinary and fecal incontinence and sexual dysfunction(1)The prevalence of symptomatic POP in China is 9.56%according to a cross-sectional study involving 54,000 adult women in six provinces in the mainland of China (unpublished data). The etiology of this disorder is multifactorial, including race, age, body mass index(BMI), parity and menopause (1)The loss of the integrity of vaginal connective tissue has been demonstrated to weaken the pelvic floor support and promote the development of POP.
基金This work was financially supported by the National Natural Science Foundation of China(No.81788101)the National Key Research and Development Program of China(No.2016YFC0905100)+1 种基金the CAMS Innovation Fund for Medical Sciences(CIFMS)(No.2016-I2M-1-002)the Natural Science Foundation of Beijing(No.7172167).
文摘Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB,and eight variants including a novel nonsense variant(c.47G>A,p.W16*)in LAMA3,a known recurrent variant(c.74C>T,p.P25L)in KRT5,2 novel(c.2531T>A,p.V844E;c.6811_6814del,p.R2271fs)and 4 known(c.6187C>T,p.R2063W;c.7097G>A,p.G2366D;c.8569G>T,p.E2857*;c.3625_3635del,p.S1209fs)variants in COL7A1 were detected.Notably,this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay.Our study expands the mutation spectra of Chinese patients with EB.
