Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway

Authors: Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Kristian Tveten, Hilde Nordgarden, Jeanette Ullmann Miller, Pamela Marika Åsten, Gisela Vasconcelos, Mari Ann Kulseth, Øystein Lunde Holla, Hanne Gro Olsen, Charlotte von der Lippe, Solrun Sigurdardottir

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-12 (2025)

Subject Terms: Bardet–Biedl syndrome, Adults, Genotype, Phenotype, Deep intronic variant, Kidney disease, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/bd7bd12a69ec47ff9cfeae3407690645

An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA

Authors: Sandrine Vuillaumier-Barrot, Thierry Dupré, Tiffany Andriantsihoarana, Vincent Desportes, David Cheillan, Stuart E. H. Moore, Isabelle Chantret

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-8 (2025)

Subject Terms: Congenital Disorders of Glycosylation, N-Glycosylation, Dolichol-linked-oligosaccharide, RFT1, ALG12, Intronic variant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/c1e5f58659264d5999fad793eeae95be

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Authors: Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao

Source: Human Genomics, Vol 18, Iss 1, Pp 1-6 (2024)

Subject Terms: PKHD1 gene, Intronic variant, Minigene, pre-mRNA splicing, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/d4c46e355609496a986f5d68753b59b9

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Authors: Qingming Wang, Fang Zhang, Xinlong Zhou, Hui Li, Juan Zhao, Haiming Yuan

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: deep intronic variant, FBN1, Marfan syndrome, minigene, RNA splicing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1564824/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/66aa0bca5b25446aa504ae15c44c3798

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

Authors: Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

Source: JIMD Reports, Vol 66, Iss 1, Pp n/a-n/a (2025)

Subject Terms: intronic variant, nephrotic syndrome, RNAseq, trifunctional protein deficiency, Undiagnosed Diseases Network, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/983f8b6f20854b53afe5c73e02f87ad4

Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage

Authors: Rong-Yue Sun, Yue Xu, Qing-Qing Huang, Si-Si Hu, Hua-Zhi Xu, Yan-Zhao Luo, Ting Zhu, Jun-Hui Sun, Yu-Jing Gong, Mian-Mian Zhu, Hong-Wei Wang, Jing-Ye Pan, Chao-Sheng Lu, Dan Wang

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

Subject Terms: COL4A2, Heterozygous intronic variant, Minigene splicing assays, Encephalomalacia, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/c4abd43693c04e8c93bdd88b4df5e015

Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings

Authors: Oikarainen, Jaakko ^{a, b, ⁎, 1}, Hinttala, Reetta ^{a, c, d, 1}, Nayebzadeh, Naemeh ^{a, c}, Kangas, Salla M. ^{a, c}, Mankinen, Katariina ^e, Rahikkala, Elisa ^{a, c, f, g}, Kokkonen, Hannaleena ^{a, h}, Vieira, Päivi ^{a, c, i}, Suo-Palosaari, Maria ^{a, b, j, 2}, Uusimaa, Johanna ^{a, c, i, 2}

Source: In Mitochondrion March 2025 81

Identification and functional characterization of two novel SRD5A2 variants in Iranian siblings with 5α-reductase type 2 deficiency: Expanding the mutational spectrum and implications for genetic diagnosis

Authors: Ordooei, Mahtab ^{a, b}, Zamani, Nasrin ^c, Rabbani, Bahareh ^c, Mahdieh, Nejat ^{d, e, ⁎}

Source: In Human Gene February 2025 43

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

Authors: Kitakado, Hideaki ¹, Horinouchi, Tomoko ^{1, ∗}, Aoyama, Shuhei ¹, Kimura, Yuka ¹, Inoki, Yuta ¹, Tanaka, Yu ¹, Ueda, Chika ¹, Aoto, Yuya ^{1, 2}, Sakakibara, Nana ¹, Nagano, China ¹, Yamamura, Tomohiko ¹, Ishimori, Shingo ¹, Rossanti, Rini ^{1, 3}, Matsuo, Masafumi ⁴, Nozu, Kandai ¹

Source: In Kidney International Reports February 2025 10(2):516-521

An intronic variant in LAMB3 contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation

Authors: Yang, Yi ^a, Wang, Yao ^b, Qin, Man ^a, Zhao, Yuming ^a, Has, Cristina ^b, Wang, Xin ^{a, ⁎}

Source: In Archives of Oral Biology January 2025 169

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Authors: Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu

Source: Stem Cell Research, Vol 81, Iss , Pp 103562- (2024)

Subject Terms: GNE myopathy, iPSC, deep intronic variant, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002605; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/72e21426c0fa43a5aca7565c4cfc1090

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders

Authors: Cheung, Anthony C.T. ^a, Di Pietro, Erminia ^h, Argyriou, Catherine ^{b, h}, Bareke, Eric ^b, D'Souza, Yasmin ^h, Puri, Ratna Dua ^c, Muhammed Shabeer, P. ^c, Ganetzky, Rebecca ^{d, i}, Goldstein, Amy ^{d, i}, Vanderver, Adeline ^{e, j}, Mohan, Shruthi ^f, Majewski, Jacek ^b, Yergeau, Christine ^h, Braverman, Nancy ^{a, g, h, ⁎}

Source: In Molecular Genetics and Metabolism May 2025 145(1)

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

Authors: Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)

Subject Terms: Antenatal Bartter syndrome, Whole exome sequencing, MAGED2, Intronic variant, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/bd60326e9d8749539029967305d4f013

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing

Authors: Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

Source: Cells, Vol 13, Iss 15, p 1261 (2024)

Subject Terms: USH2A, inherited retinal disease, long-read sequencing, Oxford nanopore sequencing, nasal epithelial cells, deep intronic variant, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/13/15/1261; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/9f8300908b4346948f247decb549375c

A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report

Authors: Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie

Source: Heliyon, Vol 10, Iss 6, Pp e28020- (2024)

Subject Terms: Becker muscular dystrophy, DMD, Aberrant splicing, Deep intronic variant, Case report, Science (General), Q1-390, Social sciences (General), H1-99

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024040519; https://doaj.org/toc/2405-8440

Access URL: https://doaj.org/article/30c3de73fd56453ba19bca83f52730ad

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Authors: Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley

Source: Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)

Subject Terms: Splicing, Variant interpretation, Deep intronic, Splice region, Splice site, Intronic variant, Biology (General), QH301-705.5, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1474-760X

Access URL: https://doaj.org/article/a68b29b28f7044f1a5d703764aca0078

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Authors: Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

Subject Terms: PKU, PAH, Deep intronic variant, RNA splicing, Minigene, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/3dba0980b90543168c5f0a05674ca0ce

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Authors: Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, Heleen M. van der Klift, Olivera Casar-Borota, Carina Frykholm, Anne-Marie Landtblom

Source: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: Becker muscular dystrophy, genetics, MLPA, mRNA, RNA sequencing, intronic variant, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1226766/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/6fcf8f8bf0e6479fb4c92c4215f6da52

Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

Authors: Ziying Yang, Minhong Huang, Xiuxiu Wei, Jun Sun, Fuping Zhang

Source: Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)

Subject Terms: case report, deep‐intronic variant, PCDH15, splicing, whole genome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/e0eee93ec9704402bbb8282c9b9c0c99

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing

Authors: Jinshuang Gao, Xiaole Li, Yaqing Guo, Haiyang Yu, Liying Song, Yang Fang, Erfeng Yuan, Qianqian Shi, Dehua Zhao, Enwu Yuan, Linlin Zhang

Source: Human Genomics, Vol 16, Iss 1, Pp 1-8 (2022)

Subject Terms: Phenylketonuria, PAH, Single-gene full-length sequencing, Deep intronic variant, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1479-7364

Access URL: https://doaj.org/article/0f7befa2ee2d484ebd568fd289ff2e65