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CLCN4-Related Neurodevelopmental Disorder.
Palmer EE, Nguyen MH, Forwood C, Kalscheuer V. Palmer EE, et al. 2021 Dec 16. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2021 Dec 16. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 34928551 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of CLCN4-NDD is established in a male proband with suggestive findings and a hemizygous pathogenic variant in CLCN4 identified by molecular genetic testing. The diagnosis of CLCN4-NDD is usually established in a female proband …
DIAGNOSIS/TESTING: The diagnosis of CLCN4-NDD is established in a male proband with suggestive findings and a hemizygous pathogenic v …
Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.
He H, Li X, Guzman GA, Bungert-Plümke S, Franzen A, Lin X, Zhu H, Peng G, Zhang H, Yu Y, Sun S, Huang Z, Zhai Q, Chen Z, Peng J, Guzman RE. He H, et al. J Neurol. 2024 Aug;271(8):4933-4948. doi: 10.1007/s00415-024-12383-4. Epub 2024 May 17. J Neurol. 2024. PMID: 38758281
This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants. ...CONCLUSIONS: We further define and broaden the clinical and mutational spectrum of CLCN4-related neurodevelopment …
This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLC …
Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability.
Li S, Zhang W, Liang P, Zhu M, Zheng B, Zhou W, Wang C, Zhao X. Li S, et al. Front Neurol. 2023 Sep 15;14:1096969. doi: 10.3389/fneur.2023.1096969. eCollection 2023. Front Neurol. 2023. PMID: 37789889 Free PMC article.
CONCLUSION: The study identified six probands with CLCN4 gene variants associated with X-linked ID. It expanded the gene and phenotype spectrum of CLCN4 variants. The bioinformatic analysis supported the pathogenicity of CLCN4 variants. However, these CLCN …
CONCLUSION: The study identified six probands with CLCN4 gene variants associated with X-linked ID. It expanded the gene and phenotyp …
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show …
In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNK …
CLCN4 -Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities.
Garrett A, Kalscheuer VM, Figueroa RR, Palmer EE, Morgan AT. Garrett A, et al. Am J Med Genet A. 2025 Dec;197(12):e64192. doi: 10.1002/ajmg.a.64192. Epub 2025 Aug 5. Am J Med Genet A. 2025. PMID: 40762462
Speech and language difficulties are a core feature of the CLCN4-related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months-41 years 10 months) with …
Speech and language difficulties are a core feature of the CLCN4-related neurodevelopmental condition, but these have not been well d …
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T. He H, et al. Epilepsia. 2021 Jun;62(6):1401-1415. doi: 10.1111/epi.16906. Epub 2021 May 5. Epilepsia. 2021. PMID: 33951195
OBJECTIVE: This study was undertaken to expand the phenotypic and genetic spectrum of CLCN4-related epilepsy and to investigate genotype-phenotype correlations. METHODS: We systematically reviewed the phenotypic and genetic spectrum of newly diagnosed and previously report …
OBJECTIVE: This study was undertaken to expand the phenotypic and genetic spectrum of CLCN4-related epilepsy and to investigate genot …
Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.
Xu X, Lu F, Zhang L, Li H, Du S, Tang J. Xu X, et al. BMC Pediatr. 2021 Sep 3;21(1):384. doi: 10.1186/s12887-021-02860-4. BMC Pediatr. 2021. PMID: 34479510 Free PMC article.
It was confirmed that this girl carried a novel heterozygous missense variant (c.1343C > T, p.Ala448Val) of CLCN4 gene, inherited from her mother. This variant has not been registered in public databases and was predicted to be pathogenic by multiple in silico predictio …
It was confirmed that this girl carried a novel heterozygous missense variant (c.1343C > T, p.Ala448Val) of CLCN4 gene, inherited …
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
Sahly AN, Sierra-Marquez J, Bungert-Plümke S, Franzen A, Mougharbel L, Berrahmoune S, Dassi C, Poulin C, Srour M, Guzman RE, Myers KA. Sahly AN, et al. Hum Genet. 2024 May;143(5):667-681. doi: 10.1007/s00439-024-02668-z. Epub 2024 Apr 5. Hum Genet. 2024. PMID: 38578438
CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl(-)/H(+) exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activi …
CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 …
Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
Lam Z, Wall E, Ryan G, Barber R, Kilby MD, Williams DK. Lam Z, et al. Prenat Diagn. 2023 Aug;43(9):1247-1250. doi: 10.1002/pd.6404. Epub 2023 Jul 19. Prenat Diagn. 2023. PMID: 37409888
Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited …
Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in …
Developmental deficits, synapse and dendritic abnormalities in a Clcn4 KO autism mice model: endophenotypic target for ASD.
Lee SM, Choi Y, Kim D, Jeong HJ, Do YH, Jung S, Lee B, Choi HJ, Kim S, Oh JM, Jeon S, Han J, Kim Y. Lee SM, et al. Transl Psychiatry. 2025 Jan 25;15(1):28. doi: 10.1038/s41398-024-03201-6. Transl Psychiatry. 2025. PMID: 39863599 Free PMC article.
Autism spectrum disorder (ASD) is linked to ion channel dysfunction, including chloride voltage-gated channel-4 (CLCN4). We generated Clcn4 knockout (KO) mice by deleting exon 5 of chromosome 7 in the C57BL/6 mice. ...Abnormalities in synaptic plasticity and dendrit …
Autism spectrum disorder (ASD) is linked to ion channel dysfunction, including chloride voltage-gated channel-4 (CLCN4). We generated …
72 results