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  1. Article ; Online: Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

    Deuis, Jennifer R / Kumble, Smitha / Keramidas, Angelo / Ragnarsson, Lotten / Simons, Cas / Pais, Lynn / White, Susan M / Vetter, Irina

    Human molecular genetics

    2023  Volume 33, Issue 2, Page(s) 103–109

    Abstract: Erythromelalgia (EM), is a familial pain syndrome characterized by episodic 'burning' pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium channel (NaV) NaV1.7. Over 25 different SCN9A ... ...

    Abstract Erythromelalgia (EM), is a familial pain syndrome characterized by episodic 'burning' pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium channel (NaV) NaV1.7. Over 25 different SCN9A mutations attributed to EM have been described to date, all identified in the SCN9A transcript utilizing exon 6N. Here we report a novel SCN9A missense variant identified in seven related individuals with stereotypic episodes of bilateral lower limb pain presenting in childhood. The variant, XM_011511617.3:c.659G>C;p.(Arg220Pro), resides in the exon 6A of SCN9A, an exon previously shown to be selectively incorporated by developmentally regulated alternative splicing. The mutation is located in the voltage-sensing S4 segment of domain I, which is important for regulating channel activation. Functional analysis showed the p.Arg220Pro mutation altered voltage-dependent activation and delayed channel inactivation, consistent with a NaV1.7 gain-of-function molecular phenotype. These results demonstrate that alternatively spliced isoforms of SCN9A should be included in all genomic testing of EM.
    MeSH term(s) Humans ; Erythromelalgia/genetics ; Mutation, Missense/genetics ; NAV1.7 Voltage-Gated Sodium Channel/genetics ; Pain/genetics ; Mutation ; Exons/genetics
    Chemical Substances NAV1.7 Voltage-Gated Sodium Channel ; SCN9A protein, human
    Language English
    Publishing date 2023-09-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddad152
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3469: Show issues Location:
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  2. Article ; Online: De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.

    Hudson, Rebecca / Abeysekera, Natasha / Wolski, Penny / Simons, Cas / Francis, Leo / Farnsworth, Elizabeth / Bennetts, Bruce / Patel, Chirag / Spijker, Siebe / Mallett, Andrew

    Journal of nephrology

    2023  Volume 37, Issue 1, Page(s) 191–197

    MeSH term(s) Humans ; Fanconi Syndrome/diagnosis ; Fanconi Syndrome/genetics ; Hepatocyte Nuclear Factor 4
    Chemical Substances HNF4A protein, human ; Hepatocyte Nuclear Factor 4
    Language English
    Publishing date 2023-06-13
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 1093991-x
    ISSN 1724-6059 ; 1120-3625 ; 1121-8428
    ISSN (online) 1724-6059
    ISSN 1120-3625 ; 1121-8428
    DOI 10.1007/s40620-023-01666-0
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  3. Article: Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

    Passchier, Emma M J / Bisseling, Quinty / Helman, Guy / van Spaendonk, Rosalina M L / Simons, Cas / Olsthoorn, René C L / van der Veen, Hieke / Abbink, Truus E M / van der Knaap, Marjo S / Min, Rogier

    Frontiers in genetics

    2024  Volume 15, Page(s) 1352947

    Abstract: The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy ... ...

    Abstract The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy and slow cognitive decline. No treatment is available. Classic MLC is caused by bi-allelic recessive pathogenic variants in
    Language English
    Publishing date 2024-02-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2024.1352947
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.

    Hort, Yvonne / Sullivan, Patricia / Wedd, Laura / Fowles, Lindsay / Stevanovski, Igor / Deveson, Ira / Simons, Cas / Mallett, Andrew / Patel, Chirag / Furlong, Timothy / Cowley, Mark J / Shine, John / Mallawaarachchi, Amali

    NPJ genomic medicine

    2023  Volume 8, Issue 1, Page(s) 16

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10% of patients remain undiagnosed after standard genetic testing. We aimed to utilise short and long-read genome sequencing and RNA studies to investigate undiagnosed families. Patients with typical ADPKD phenotype and undiagnosed after genetic diagnostics were recruited. Probands underwent short-read genome sequencing, PKD1 and PKD2 coding and non-coding analyses and then genome-wide analysis. Targeted RNA studies investigated variants suspected to impact splicing. Those undiagnosed then underwent Oxford Nanopore Technologies long-read genome sequencing. From over 172 probands, 9 met inclusion criteria and consented. A genetic diagnosis was made in 8 of 9 (89%) families undiagnosed on prior genetic testing. Six had variants impacting splicing, five in non-coding regions of PKD1. Short-read genome sequencing identified novel branchpoint, AG-exclusion zone and missense variants generating cryptic splice sites and a deletion causing critical intron shortening. Long-read sequencing confirmed the diagnosis in one family. Most undiagnosed families with typical ADPKD have splice-impacting variants in PKD1. We describe a pragmatic method for diagnostic laboratories to assess PKD1 and PKD2 non-coding regions and validate suspected splicing variants through targeted RNA studies.
    Language English
    Publishing date 2023-07-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2813848-X
    ISSN 2056-7944 ; 2056-7944
    ISSN (online) 2056-7944
    ISSN 2056-7944
    DOI 10.1038/s41525-023-00362-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: ahctf1

    Morgan, Kimberly J / Doggett, Karen / Geng, Fansuo / Mieruszynski, Stephen / Whitehead, Lachlan / Smith, Kelly A / Hogan, Benjamin M / Simons, Cas / Baillie, Gregory J / Molania, Ramyar / Papenfuss, Anthony T / Hall, Thomas E / Ober, Elke A / Stainier, Didier Y R / Gong, Zhiyuan / Heath, Joan K

    eLife

    2023  Volume 12

    Abstract: The nucleoporin (NUP) ELYS, encoded ... ...

    Abstract The nucleoporin (NUP) ELYS, encoded by
    MeSH term(s) Animals ; Carcinoma, Hepatocellular/genetics ; Carcinoma, Hepatocellular/pathology ; Zebrafish/genetics ; Zebrafish/metabolism ; Nuclear Pore Complex Proteins/genetics ; Nuclear Pore Complex Proteins/metabolism ; Hyperplasia ; Liver Neoplasms/genetics ; Liver Neoplasms/pathology ; Mutation ; Proto-Oncogene Proteins p21(ras)/genetics ; Proto-Oncogene Proteins p21(ras)/metabolism ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism
    Chemical Substances Nuclear Pore Complex Proteins ; Kras protein, zebrafish (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2) ; Zebrafish Proteins
    Language English
    Publishing date 2023-01-17
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.73407
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

    Stellingwerff, Menno D / Nulton, Corinne / Helman, Guy / Roosendaal, Stefan D / Benko, William S / Pizzino, Amy / Bugiani, Marianna / Vanderver, Adeline / Simons, Cas / van der Knaap, Marjo S

    Neuropediatrics

    2022  Volume 53, Issue 2, Page(s) 115–121

    Abstract: Objective: Heterozygous : Methods: Clinical records and available MRI and CT scans of three patients from two unrelated families were retrospectively reviewed.: Results: The patients presented at 9 to 14 months of age with developmental delay, ... ...

    Abstract Objective: Heterozygous
    Methods: Clinical records and available MRI and CT scans of three patients from two unrelated families were retrospectively reviewed.
    Results: The patients presented at 9 to 14 months of age with developmental delay, seizures, or both. The disease course was characterized by cognitive impairment and variably recurrent strokes, migraine attacks, and seizures. MRI findings pointed at a small vessel disease, with extensive cerebral white matter abnormalities, atrophy, lacunes in the basal ganglia, microbleeds, and microcalcifications. The anterior temporal lobes were spared. Bi-allelic cysteine-sparing
    Interpretation: This study indicates that bi-allelic loss-of-function
    MeSH term(s) Adult ; Alleles ; CADASIL/diagnostic imaging ; CADASIL/genetics ; Humans ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/genetics ; Magnetic Resonance Imaging ; Mutation ; Receptor, Notch3/genetics ; Retrospective Studies ; Seizures
    Chemical Substances NOTCH3 protein, human ; Receptor, Notch3
    Language English
    Publishing date 2022-02-23
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/a-1739-2722
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Participant Choice towards Receiving Potential Additional Findings in an Australian Nephrology Research Genomics Study.

    O'Shea, Rosie / Wood, Alasdair / Patel, Chirag / McCarthy, Hugh J / Mallawaarachchi, Amali / Quinlan, Catherine / Simons, Cas / Stark, Zornitza / Mallett, Andrew J

    Genes

    2022  Volume 13, Issue 10

    Abstract: The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices. ...

    Abstract The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices.
    MeSH term(s) Adult ; Humans ; Nephrology ; Australia ; Genomics ; Genetic Testing ; Kidney Diseases/genetics
    Language English
    Publishing date 2022-10-06
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13101804
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.

    Soraru, Jacqueline / Jahan, Sadia / Quinlan, Catherine / Simons, Cas / Wardrop, Louise / O'Shea, Rosie / Wood, Alasdair / Mallawaarachchi, Amali / Patel, Chirag / Stark, Zornitza / Mallett, Andrew John

    Frontiers in medicine

    2022  Volume 9, Page(s) 891223

    Abstract: Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in ... ...

    Abstract Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in patients with kidney failure without distinguishing diagnostic features. To address this challenge, the primary aim of this study is to determine the proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS). A cohort of up to 100 Australian patients with kidney failure of unknown aetiology, with onset <50 years old and approved by a panel of study investigators will be recruited
    Study registration: [https://dora.health.qld.gov.au], identifier [HREC/16/MH/251].
    Language English
    Publishing date 2022-05-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2022.891223
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  9. Article ; Online: Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.

    Wu, Kaiyuan / Takanohashi, Asako / Woidill, Sarah / Seylani, Allen / Helman, Guy / Dias, Patricia / Beers, Jeanette / Lin, Yongshun / Simons, Cas / Wolvetang, Ernst / Zou, Jizhong / Vanderver, Adeline / Sack, Michael N

    Stem cell research

    2022  Volume 64, Page(s) 102905

    Abstract: Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional ... ...

    Abstract Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional individuals with leukodystrophy that harbored either complex heterozygous (Bloc1s1 c.206A > C and c.359G > A), or homozygous (Bloc1s1 c.185 T > C) point mutations. We generated induced pluripotential stem cell (iPSC) lines from these subjects, from parents of the complex heterozygous mutations patient, and from CRISPR isogenic (c.206A > C and c.359G > A) corrected iPSC-line. These complex heterozygous, homozygous, and isogenic-corrected Bloc1s1 lines were phenotypically normal and were capable of differentiation towards the three germ layers.
    MeSH term(s) Humans ; Homozygote ; Induced Pluripotent Stem Cells/metabolism ; Heterozygote ; Mutation/genetics ; Clustered Regularly Interspaced Short Palindromic Repeats ; Nerve Tissue Proteins/metabolism
    Chemical Substances BLOC1S1 protein, human ; Nerve Tissue Proteins
    Language English
    Publishing date 2022-08-30
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Intramural ; Research Support, N.I.H., Extramural
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2022.102905
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  10. Article ; Online: MAFB modulates the maturation of lymphatic vascular networks in mice.

    Rondon-Galeano, Maria / Skoczylas, Renae / Bower, Neil I / Simons, Cas / Gordon, Emma / Francois, Mathias / Koltowska, Katarzyna / Hogan, Benjamin M

    Developmental dynamics : an official publication of the American Association of Anatomists

    2020  Volume 249, Issue 10, Page(s) 1201–1216

    Abstract: Background: Lymphatic vessels play key roles in tissue fluid homeostasis, immune cell trafficking and in diverse disease settings. Lymphangiogenesis requires lymphatic endothelial cell (LEC) differentiation, proliferation, migration, and co-ordinated ... ...

    Abstract Background: Lymphatic vessels play key roles in tissue fluid homeostasis, immune cell trafficking and in diverse disease settings. Lymphangiogenesis requires lymphatic endothelial cell (LEC) differentiation, proliferation, migration, and co-ordinated network formation, yet the transcriptional regulators underpinning these processes remain to be fully understood. The transcription factor MAFB was recently identified as essential for lymphangiogenesis in zebrafish and in cultured human LECs. MAFB is activated in response to VEGFC-VEGFR3 signaling and acts as a downstream effector. However, it remains unclear if the role of MAFB in lymphatic development is conserved in the mammalian embryo.
    Results: We generated a Mafb loss-of-function mouse using CRISPR/Cas9 gene editing. Mafb mutant mice presented with perinatal lethality associated with cyanosis. We identify a role for MAFB in modifying lymphatic network morphogenesis in the developing dermis, as well as developing and postnatal diaphragm. Furthermore, mutant vessels displayed excessive smooth muscle cell coverage, suggestive of a defect in the maturation of lymphatic networks.
    Conclusions: This work confirms a conserved role for MAFB in murine lymphatics that is subtle and modulatory and may suggest redundancy in MAF family transcription factors during lymphangiogenesis.
    MeSH term(s) Animals ; CRISPR-Cas Systems ; Crosses, Genetic ; Genome ; Genotype ; In Situ Hybridization ; Lymphangiogenesis/physiology ; Lymphatic Vessels/metabolism ; MafB Transcription Factor/physiology ; Mice ; Mice, Knockout ; Mutation ; RNA, Messenger/metabolism ; Signal Transduction ; Time Factors
    Chemical Substances MafB Transcription Factor ; Mafb protein, mouse ; RNA, Messenger
    Language English
    Publishing date 2020-07-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1102541-4
    ISSN 1097-0177 ; 1058-8388
    ISSN (online) 1097-0177
    ISSN 1058-8388
    DOI 10.1002/dvdy.209
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