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A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.
Chen Y, Chen Q, Yuan K, Zhu J, Fang Y, Yan Q, Wang C. Chen Y, et al. Genes (Basel). 2022 Apr 22;13(5):740. doi: 10.3390/genes13050740. Genes (Basel). 2022. PMID: 35627125 Free PMC article.
We also examined the key regulatory sequences of the 5' untranslated region in NIPBL mRNA. Few studies have reported mutation sites in the 5' untranslated region (UTR) of the NIPBL that result in CdLS. ...Our in vitro experiments elucidated important regulatory sequ …
We also examined the key regulatory sequences of the 5' untranslated region in NIPBL mRNA. Few studies have reported mutation sites i …
Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual.
Wierzba J, Gil-Rodríguez MC, Polucha A, Puisac B, Arnedo M, Teresa-Rodrigo ME, Winnicka D, Hegardt FG, Ramos FJ, Limon J, Pié J. Wierzba J, et al. BMC Med Genet. 2012 Jun 7;13:43. doi: 10.1186/1471-2350-13-43. BMC Med Genet. 2012. PMID: 22676896 Free PMC article.
CASE PRESENTATION: Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. ...She also presented with minor clinical features consistent with TS, includ …
CASE PRESENTATION: Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA …
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V. Nizon M, et al. Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3. Clin Genet. 2016. PMID: 26701315 Free article.
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on le …
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, …
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC. Huisman SA, et al. J Med Genet. 2013 May;50(5):339-44. doi: 10.1136/jmedgenet-2012-101477. Epub 2013 Mar 15. J Med Genet. 2013. PMID: 23505322
In 10 of the 13 tested individuals without detectable mutation in lymphocytes a NIPBL mutation could be detected in buccal cells. Clinically there were no significant differences between patients with a germline and mosaic NIPBL mutation. CONCLUSIONS: Somatic mosaic …
In 10 of the 13 tested individuals without detectable mutation in lymphocytes a NIPBL mutation could be detected in buccal cells. Cli …
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A, Malone J, Li H. Gonzalez Garcia A, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005322. doi: 10.1101/mcs.a005322. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532882 Free PMC article.
Mosaicism in Cornelia de Lange syndrome (CdLS) has been reported in clinically diagnosed CdLS patients with negative molecular testing using blood as the specimen, particularly in the NIPBL gene. Here we report a novel mosaic variant in SMC1A identified in the buccal swab …
Mosaicism in Cornelia de Lange syndrome (CdLS) has been reported in clinically diagnosed CdLS patients with negative molecular testing using …
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Pozojevic J, et al. Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15. Eur J Med Genet. 2018. PMID: 29155047
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either structural (SMC1A, SMC3, RAD21) or regulatory (NIPBL, HDAC8) subunits of the cohesin complex. NIPBL represents the major gene of th …
Cornelia de Lange syndrome (CdLS) is a dominantly inherited developmental disorder caused by mutations in genes that encode for either struc …
Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis.
Bergeron M, Chang K, Ishman SL. Bergeron M, et al. Laryngoscope. 2020 Apr;130(4):E122-E133. doi: 10.1002/lary.28169. Epub 2019 Jul 13. Laryngoscope. 2020. PMID: 31301187
Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3-88.4), dentition (65.1%; 95% CI: 27.2-100), mouth (85.5%; 95% CI: 76.2-93.8), and eyelashes (87.1%; 95% CI: 77.2-96.9). ...
Additional physical exam abnormalities reported included those involving: lips (76.8%; 95% CI: 65.3-88.4), dentition (65.1%; 95% CI: 27.2-10 …
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.
Murray JE, Walayat M, Gillett P, Sharkey FH, Rajan D, Carter NP, FitzPatrick DR. Murray JE, et al. Clin Dysmorphol. 2012 Jan;21(1):22-23. doi: 10.1097/MCD.0b013e32834c4afc. Clin Dysmorphol. 2012. PMID: 21934607
Approximately half of all classical cases of CdLS have heterozygous loss of-function mutations in the gene encoding NIPBL, a component of the cohesion-loading apparatus (Dorsett and Krantz, 2009). Herein we describe a patient with a rare intragenic deletion of NIPBL …
Approximately half of all classical cases of CdLS have heterozygous loss of-function mutations in the gene encoding NIPBL, a componen …
Cornelia de Lange Syndrome with NIPBL gene mutation: a case report.
Park KH, Lee ST, Ki CS, Byun SY. Park KH, et al. J Korean Med Sci. 2010 Dec;25(12):1821-3. doi: 10.3346/jkms.2010.25.12.1821. Epub 2010 Nov 24. J Korean Med Sci. 2010. PMID: 21165303 Free PMC article.
The etiology is still not clear. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A (also called SMC1L1) and SMC3 have been suggested as probable cause of this syndrome. ...We detected a NIPBL gene mutation in a present neonate with CdLS, the first …
The etiology is still not clear. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A (also called SMC1L1) and SMC3 h …
Cornelia de Lange syndrome: description of the orofacial features and case report.
Guadagni MG, Cetrullo N, Piana G. Guadagni MG, et al. Eur J Paediatr Dent. 2008 Dec;9(4 Suppl):9-13. Eur J Paediatr Dent. 2008. PMID: 19886366
The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is considered to be responsible of the disease. ...
The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is con …