Results 21 to 30 of about 91,518 (258)

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report

BMC Medical Genomics, 2018
Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within
Mitsuko Furuya, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka, Yukio Nakatani   +5 more
doaj   +1 more source

Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation.
Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu   +4 more
doaj   +1 more source

A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia. [PDF]

Heliyon
Pathogenic genes in most patients with cleidocranial dysplasia have been confirmed to be runt-related transcription factor 2 (RUNX2), which controls mutations in specific osteoblast transcription factors and affects skull ossification and suture adhesion. This study aimed to explore the role of RUNX2 mutations.
Wang J, Li Q, Li H, Liu X, Hu Y, Bai Y, Yang K.   +6 more
europepmc   +4 more sources

Novel POLG Splice Site Mutation and Optic Atrophy [PDF]

Archives of Neurology, 2011
To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them.Clinical examination and neurophysiological, radiological, morphological, and molecular analyses.Tertiary care neuromuscular clinic and molecular genetics laboratory.A 65-year-old man (patient 1) with ...
Margherita, Milone, Jing, Wang, Teerin, Liewluck, Li-Chieh, Chen, Jacqueline A, Leavitt, Lee-Jun, Wong   +5 more
openaire   +2 more sources

Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease

ESC Heart Failure, 2023
Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the proband, and Sanger
Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng   +4 more
doaj   +1 more source

A mutational analysis of U12-dependent splice site dinucleotides [PDF]

RNA, 2005
Introns spliced by the U12-dependent minor spliceosome are divided into two classes based on their splice site dinucleotides. The /AU-AC/ class accounts for about one-third of U12-dependent introns in humans, while the /GU-AG/ class accounts for the other two-thirds.
Rosemary C, Dietrich, John D, Fuller, Richard A, Padgett   +2 more
openaire   +2 more sources

Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome

Hematology/Oncology and Stem Cell Therapy, 2020
Objective/background: Retinoblastoma (RB), the most common intraocular malignancy in children, is caused by biallelic inactivation of the human retinoblastoma susceptibility gene (RB1).
Mustafa Mehyar, Mohammad Mosallam, Abdelghani Tbakhi, Ala Saab, Iyad Sultan, Rasha Deebajah, Imad Jaradat, Reem AlJabari, Mona Mohammad, Ibrahim AlNawaiseh, Maysa Al-Hussaini, Yacoub A. Yousef   +11 more
doaj   +1 more source

BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line. [PDF]

PLoS ONE, 2015
BAP1 is a tumor suppressor gene that is lost or deleted in diverse cancers, including uveal mela¬noma, malignant pleural mesothelioma (MPM), clear cell renal carcinoma, and cholangiocarcinoma.
Arianne Morrison, Yvonne Chekaluk, Ruben Bacares, Marc Ladanyi, Liying Zhang   +4 more
doaj   +1 more source

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

BMC Medical Genetics, 2008
Background BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered.
Eiberg Hans, Filtenborg-Barnkob Bettina, Albrechtsen Anders, Jønson Lars, Bisgaard Marie, Hansen Thomas, Ejlertsen Bent, Nielsen Finn C   +7 more
doaj   +1 more source

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source