A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome

被引:0
|
作者
Boutaina Zemrani
François Cachat
Olivier Bonny
Eric Giannoni
Jacques Durig
Florence Fellmann
Hassib Chehade
机构
[1] Lausanne University Hospital,Division of Pediatric Nephrology, Department of Pediatrics
[2] Lausanne University Hospital,Service of Nephrology
[3] Lausanne University Hospital,Service of Neonatology
[4] Lausanne University Hospital,Service of Ophthalmology
[5] Lausanne University Hospital,Service of Medical Genetics
来源
European Journal of Medical Research | / 21卷
关键词
Pierson syndrome; Newborn; Nephrotic syndrome; LAMB2 mutation;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome
    Sobieszczanska-Drozdziel, Aleksandra
    Grenda, Ryszard
    Lipska-Zietkiewicz, Beata Stefania
    Korolczuk, Agnieszka
    Jarmuzek, Wioletta
    Sikora, Przemyslaw
    NEPHRON, 2021, : 579 - 584
  • [22] A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2
    Matejas, Verena
    Al-Gazali, Lihadh
    Amirlak, Iradj
    Zenker, Martin
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2006, 21 (11) : 3283 - 3286
  • [23] Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome
    Abid, Aiysha
    Shahid, Saba
    Shakoor, Madiha
    Lanewala, Ali A.
    Hashmi, Seema
    Khaliq, Shagufta
    FRONTIERS IN GENETICS, 2018, 9
  • [24] Novel mutation in Wilms' tumour 1 gene associated with steroid-resistant nephrotic syndrome
    Beltcheva, Olga
    Boueva, Anelia
    Morgunova, Ekaterina
    Boiadjieva, Emilia
    Marinova, Svetlana
    Kaneva, Radka
    Mitev, Vanio
    CLINICAL KIDNEY JOURNAL, 2011, 4 (02): : 17 - 19
  • [25] Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
    Liru Qiu
    Jianhua Zhou
    BMC Pediatrics, 16
  • [26] LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay
    Wang, Xiaoyuan
    Xiao, Huijie
    Su, Baige
    Ren, Yali
    Ding, Jie
    Wang, Fang
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (07):
  • [27] Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
    Suzuki, Ryota
    Sakakibara, Nana
    Ichikawa, Yuta
    Kitakado, Hideaki
    Ueda, Chika
    Tanaka, Yu
    Okada, Eri
    Kondo, Atsushi
    Ishiko, Shinya
    Ishimori, Shingo
    Nagano, China
    Yamamura, Tomohiko
    Horinouchi, Tomoko
    Okamoto, Takayuki
    Nozu, Kandai
    KIDNEY INTERNATIONAL REPORTS, 2023, 8 (09): : 1811 - 1821
  • [28] Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
    Qiu, Liru
    Zhou, Jianhua
    BMC PEDIATRICS, 2016, 16
  • [29] Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
    Obermannova, Barbora
    Banghova, Karolina
    Sumnik, Zdenek
    Dvorakova, Hana M.
    Betka, Jan
    Fencl, Filip
    Kolouskova, Stanislava
    Cinek, Ondrej
    Lebl, Jan
    EUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (05) : 569 - 573
  • [30] Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene
    Barbora Obermannova
    Karolina Banghova
    Zdenek Sumník
    Hana M. Dvorakova
    Jan Betka
    Filip Fencl
    Stanislava Kolouskova
    Ondrej Cinek
    Jan Lebl
    European Journal of Pediatrics, 2009, 168 : 569 - 573