Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

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Fältnamn	Indikatorer	Metadata
000		11388naa a2201477 4500
001		oai:DiVA.org:liu-190337
003		SwePub
008		221205s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1903372 URI
024	7	a https://doi.org/10.1038/s41380-022-01852-92 DOI
040		a (SwePub)liu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Palmer, Elizabeth E.u Sydney Childrens Hosp Network, Australia; Univ New South Wales, Australia4 aut
245	1 0	a Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
264		c 2022-11-16
264	1	b SPRINGERNATURE,c 2023
338		a print2 rdacarrier
500		a Funding Agencies\|Fondazione AIRC per la Ricerca sul Cancro [IG 21558]; Italian Ministry for University and Research (MIUR) [PRIN 20174TB8KW]; FWO [1861419N]; Queen Elisabeth Medical Foundation; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) [418081722, 433158657]; CPA grant [PG01217]; NHMRC Principal Research Fellowship [GNT1120615]; BICARE, Australia; King Salman Center for Disability Research [RG-2022-010, RG-2022-011]; MRC [MR/T007087/1]; GOSH Charity [VS0122]; Rosetrees Trust [CF2\100018]; NHMRC Investigator Grant [GNT20081]; Projekt DEAL; NIHR GOSH BRC
520		a Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Pusch, Michaelu CNR, Italy4 aut
700	1	a Picollo, Alessandrau CNR, Italy4 aut
700	1	a Forwood, Caitlinu Sydney Childrens Hosp Network, Australia4 aut
700	1	a Nguyen, Matthew H.u Univ New South Wales, Australia; Liverpool Hosp, Australia4 aut
700	1	a Suckow, Vanessau Max Planck Inst Mol Genet, Germany4 aut
700	1	a Gibbons, Jessicau Max Planck Inst Mol Genet, Germany4 aut
700	1	a Hoff, Alvau Linköpings universitet,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,CNR, Italy4 aut0 (Swepub:liu)n/a
700	1	a Sigfrid, Lisau Linköpings universitet,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,CNR, Italy4 aut0 (Swepub:liu)n/a
700	1	a Megarbane, Andreu Lebanese Amer Univ, Lebanon; Inst Jerome Lejeune, France4 aut
700	1	a Nizon, Mathildeu Nantes Univ, France; Nantes Univ, France4 aut
700	1	a Cogne, Benjaminu Nantes Univ, France; Nantes Univ, France4 aut
700	1	a Beneteau, Claireu Nantes Univ, France4 aut
700	1	a Alkuraya, Fowzan S.u King Faisal Specialist Hosp & Res Ctr, Saudi Arabia4 aut
700	1	a Chedrawi, Azizau King Faisal Specialist Hosp & Res Ctr, Saudi Arabia4 aut
700	1	a Hashem, Mais O.u King Faisal Specialist Hosp & Res Ctr, Saudi Arabia4 aut
700	1	a Stamberger, Hannahu VIB, Belgium; Antwerp Univ Hosp, Belgium4 aut
700	1	a Weckhuysen, Sarahu VIB, Belgium; Antwerp Univ Hosp, Belgium; Univ Antwerp, Belgium4 aut
700	1	a Vanlander, Arnaudu Ghent Univ Hosp, Belgium4 aut
700	1	a Ceulemans, Bertenu Univ Antwerp, Belgium4 aut
700	1	a Rajagopalan, Sulekhau Liverpool Hosp, Australia4 aut
700	1	a Nunn, Kennethu Childrens Hosp Westmead, Australia4 aut
700	1	a Arpin, Stephanieu Ctr Hosp Reg Univ Tours, France4 aut
700	1	a Raynaud, Martineu Ctr Hosp Reg Univ Tours, France4 aut
700	1	a Motter, Constance S.u Akron Childrens Hosp, OH 44308 USA4 aut
700	1	a Ward-Melver, Catherineu Akron Childrens Hosp, OH 44308 USA4 aut
700	1	a Janssens, Katrienu Univ Antwerp, Belgium4 aut
700	1	a Meuwissen, Marijeu Univ Antwerp, Belgium4 aut
700	1	a Beysen, Dianeu Univ Antwerp, Belgium4 aut
700	1	a Dikow, Nicolau Heidelberg Univ, Germany4 aut
700	1	a Grimmel, Monau Univ Tubingen, Germany4 aut
700	1	a Haack, Tobias B.u Univ Tubingen, Germany4 aut
700	1	a Clement, Emmau Great Ormond St Hosp Sick Children, England4 aut
700	1	a McTague, Amyu UCL Great Ormond St Inst Child Hlth, England; Great Ormond St Hosp Sick Children, England4 aut
700	1	a Hunt, Davidu Princess Anne Hosp, England4 aut
700	1	a Townshend, Sharronu King Edward Mem Hosp, Australia4 aut
700	1	a Ward, Michelleu King Edward Mem Hosp, Australia4 aut
700	1	a Richards, Linda J.u Washington Univ, MI USA; Univ Queensland, Australia4 aut
700	1	a Simons, Casu Murdoch Childrens Res Inst, Australia; UNSW, Australia4 aut
700	1	a Costain, Gregoryu Hosp Sick Children, Canada4 aut
700	1	a Dupuis, Lucieu Hosp Sick Children, Canada4 aut
700	1	a Mendoza-Londono, Robertou Hosp Sick Children, Canada4 aut
700	1	a Dudding-Byth, Tracyu Genet Learning Disabil Serv, Australia; Univ Newcastle, Australia4 aut
700	1	a Boyle, Jackieu Genet Learning Disabil Serv, Australia4 aut
700	1	a Saunders, Carolu Childrens Mercy Hosp & Clin, MI USA; Univ Missouri, MI USA4 aut
700	1	a Fleming, Emilyu Childrens Mercy Hosp & Clin, MI USA4 aut
700	1	a El Chehadeh, Salimau Hop Univ Strasbourg, France; Univ Strasbourg, France; INSERM, France4 aut
700	1	a Spitz, Marie-Audeu Hop Univ Strasbourg, France4 aut
700	1	a Piton, Amelieu Hop Univ Strasbourg, France4 aut
700	1	a Gerard, Benedicteu Hop Univ Strasbourg, France4 aut
700	1	a Warde, Marie-Therese Abiu Hop Univ Strasbourg, France; CHU Strasbourg, France4 aut
700	1	a Rea, Gillianu Northern Ireland Reg Genet Serv, North Ireland4 aut
700	1	a McKenna, Caoimheu Northern Ireland Reg Genet Serv, North Ireland4 aut
700	1	a Douzgou, Sofiau Haukeland Hosp, Norway; Univ Manchester, England4 aut
700	1	a Banka, Siddharthu Univ Manchester, England; Manchester Univ NHS Fdn Trust, England4 aut
700	1	a Akman, Cigdemu Columbia Univ, NY USA4 aut
700	1	a Bain, Jennifer M.u Columbia Univ, NY USA4 aut
700	1	a Sands, Tristan T.u Columbia Univ, NY USA4 aut
700	1	a Wilson, Golder N.u Texas Tech Hlth Sci Ctr Lubbock, TX USA; KinderGenome Med Genet, TX USA4 aut
700	1	a Silvertooth, Erin J.u Texas Sports Psychiat & Integrat Hlth, TX USA4 aut
700	1	a Miller, Laurenu Hillcrest Internal Med, TX USA4 aut
700	1	a Lederer, Damienu Inst Pathol & Genet ASBL, Belgium4 aut
700	1	a Sachdev, Raniu Sydney Childrens Hosp Network, Australia; Univ New South Wales, Australia4 aut
700	1	a Macintosh, Rebeccau Sydney Childrens Hosp Network, Australia; Univ New South Wales, Australia4 aut
700	1	a Monestier, Olivieru Inst Pathol & Genet ASBL, Belgium4 aut
700	1	a Karadurmus, Denizu Inst Pathol & Genet ASBL, Belgium4 aut
700	1	a Collins, Felicityu Royal Prince Alfred Hosp, Australia4 aut
700	1	a Carter, Melissau Childrens Hosp Eastern Ontario, Canada4 aut
700	1	a Rohena, Luisu San Antonio Mil Med Ctr, TX USA; UT Hlth San Antonio, TX USA4 aut
700	1	a Willemsen, Marjolein H.u Radboud Univ Nijmegen Med Ctr, Netherlands4 aut
700	1	a Ockeloen, Charlotte W.u Radboud Univ Nijmegen Med Ctr, Netherlands4 aut
700	1	a Pfundt, Rolphu Radboud Univ Nijmegen Med Ctr, Netherlands4 aut
700	1	a Kroft, Sanne D.u Pluryn, Netherlands4 aut
700	1	a Field, Michaelu Genet Learning Disabil Serv, Australia4 aut
700	1	a Laranjeira, Francisco E. R.u Ctr Hosp Univ Porto, Portugal4 aut
700	1	a Fortuna, Ana M.u Univ Porto, Portugal4 aut
700	1	a Soares, Ana R.u Univ Porto, Portugal4 aut
700	1	a Michaud, Vincentu CHU Bordeaux, France; Bordeaux Univ, France4 aut
700	1	a Naudion, Sophieu CHU Bordeaux, France4 aut
700	1	a Golla, Sailajau CHOC Hosp, CA USA4 aut
700	1	a Weaver, David D.u Indiana Univ Sch Med, IN 46202 USA4 aut
700	1	a Bird, Lynne M.u Univ Calif San Diego, CA 92103 USA4 aut
700	1	a Friedman, Jenniferu Univ Calif San Diego, CA 92103 USA4 aut
700	1	a Clowes, Virginiau London North West Univ Healthcare NHS Trust, England; Imperial Coll London, England4 aut
700	1	a Joss, Shelaghu Queen Elizabeth Univ Hosp, Scotland4 aut
700	1	a Polsler, Laurau Univ Ziekenhuis Brussel, Belgium4 aut
700	1	a Campeau, Philippe M.u Univ Montreal, Canada4 aut
700	1	a Blazo, Mariau Texas A&M Univ, TX USA4 aut
700	1	a Bijlsma, Emilia K.u Leiden Univ Med Ctr, Netherlands4 aut
700	1	a Rosenfeld, Jill A.u Baylor Coll Med, TX 77030 USA; Baylor Genet Labs, TX USA4 aut
700	1	a Beetz, Christianu Centogene GmbH, Germany4 aut
700	1	a Powis, Zoeu Ambry Genet, CA USA4 aut
700	1	a McWalter, Kirstyu GeneDx LLC, MA USA4 aut
700	1	a Brandt, Tracyu GeneDx LLC, MA USA4 aut
700	1	a Torti, Erinu GeneDx LLC, MA USA4 aut
700	1	a Mathot, Mikaelu CHU UCL Namur, Belgium4 aut
700	1	a Mohammad, Shekeeb S.u Childrens Hosp Westmead, Australia4 aut
700	1	a Armstrong, Ruthu Addenbrookes Hosp, England4 aut
700	1	a Kalscheuer, Vera M.u Max Planck Inst Mol Genet, Germany4 aut
710	2	a Sydney Childrens Hosp Network, Australia; Univ New South Wales, Australiab CNR, Italy4 org
773	0	t Molecular Psychiatryd : SPRINGERNATUREg 28:2, s. 668-697q 28:2<668-697x 1359-4184x 1476-5578
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-190337
856	4 8	u https://doi.org/10.1038/s41380-022-01852-9

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Av författaren/redakt...: Palmer, Elizabet ...; Pusch, Michael; Picollo, Alessan ...; Forwood, Caitlin; Nguyen, Matthew ...; Suckow, Vanessa; visa fler...; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan ...; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hann ...; Weckhuysen, Sara ...; Vanlander, Arnau ...; Ceulemans, Berte ...; Rajagopalan, Sul ...; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constanc ...; Ward-Melver, Cat ...; Janssens, Katrie ...; Meuwissen, Marij ...; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharr ...; Ward, Michelle; Richards, Linda ...; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, ...; Dudding-Byth, Tr ...; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Sal ...; Spitz, Marie-Aud ...; Piton, Amelie; Gerard, Benedict ...; Warde, Marie-The ...; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M ...; Sands, Tristan T ...; Wilson, Golder N ...; Silvertooth, Eri ...; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebec ...; Monestier, Olivi ...; Karadurmus, Deni ...; Collins, Felicit ...; Carter, Melissa; Rohena, Luis; Willemsen, Marjo ...; Ockeloen, Charlo ...; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Fran ...; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennif ...; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philipp ...; Blazo, Maria; Bijlsma, Emilia ...; Rosenfeld, Jill ...; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekee ...; Armstrong, Ruth; Kalscheuer, Vera ...; visa färre...

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