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Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U. Evers C, et al. Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Am J Med Genet A. 2015. PMID: 25691408 Review.
We describe five female patients carrying de novo Xp duplications encompassing p11.23. Patient 1 carried the recurrent microduplication Xp11.22-p11.23, her phenotype and X-chromosome inactivation (XI) pattern was consistent with previous reports. The other fo …
We describe five female patients carrying de novo Xp duplications encompassing p11.23. Patient 1 carried the recurrent microduplicati …
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings.
Santos-Rebouças CB, Boy R, Fernandes GNS, Gonçalves AP, Abdala BB, Gonzalez LGC, Dos Santos JM, Pimentel MMG. Santos-Rebouças CB, et al. Eur J Med Genet. 2023 Apr;66(4):104716. doi: 10.1016/j.ejmg.2023.104716. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731745 Free article.
Here, we report a male patient with sporadic, severe and syndromic ID, carrying a novel and unique 842 kb duplication at Xp11.22, including the dosage-sensitive HUWE1 gene and other fifteen curated RefSeq genes. ...Overall, our clinical, molecular, and neurol …
Here, we report a male patient with sporadic, severe and syndromic ID, carrying a novel and unique 842 kb duplication at Xp11. …
Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P. Paprocka J, et al. Epilepsia Open. 2024 Aug;9(4):1192-1232. doi: 10.1002/epi4.12951. Epub 2024 Jun 4. Epilepsia Open. 2024. PMID: 38837855 Free PMC article. Review.
Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q13.3 deletions, ring 20, Down syndrome, or Xp11.22-11.23 duplication. We also reviewed studies on epileptic seizures an …
Only a few disorders have peculiar electroclinical abnormalities: 1p36, 4p16, 6q terminal or trisomy 12p, Angelman syndrome, inv dup 15, 15q …
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. Chung BH, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e516-20. doi: 10.1016/j.ejmg.2011.05.008. Epub 2011 Jun 29. Eur J Med Genet. 2011. PMID: 21689796
Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this reference case the diagnosis was Autism Spectrum Disorder (ASD). ...
Here, we characterize a 4.64 Mb de novo duplication of the same Xp11.22-p11.23 ID region in a female, but for this refe …
Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.
Orivoli S, Pavlidis E, Cantalupo G, Pezzella M, Zara F, Garavelli L, Pisani F, Piccolo B. Orivoli S, et al. Neuropediatrics. 2016 Jan;47(1):51-6. doi: 10.1055/s-0035-1566233. Epub 2015 Nov 20. Neuropediatrics. 2016. PMID: 26587761 Review.
Xp11.22 microduplications have been reported in different patients with X-linked intellectual disability. Comparing the duplicated segments, a minimum region of overlap has been identified. Within this region, only one gene, the HUWE1 gene, coding the E3 ubiq …
Xp11.22 microduplications have been reported in different patients with X-linked intellectual disability. Comparing the dup …
Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.
Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P. Bonnet C, et al. J Hum Genet. 2006;51(9):815. doi: 10.1007/s10038-006-0023-3. Epub 2006 Aug 10. J Hum Genet. 2006. PMID: 16900295
Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in a 15-year-old male with moderate mental impairment, autistic-like behaviour, short stature, and mild dysmorphic features. ...As far as we ar …
Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in …
Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.
Verbeek S, Vanakker O, Mercelis R, Lipka AF, Haerynck F, Dullaers M, Verloo P, Van Coster R, Verhelst H. Verbeek S, et al. Eur J Paediatr Neurol. 2014 May;18(3):439-43. doi: 10.1016/j.ejpn.2014.01.001. Epub 2014 Jan 15. Eur J Paediatr Neurol. 2014. PMID: 24461257
We report on a 13-year-old girl, known with the Xp11.22-p11.23 duplication syndrome, who presented with severe non-paraneoplastic LEMS. ...Previous literature review of twelve Xp11.2 duplication syndrome patients showed that three of them suffered from …
We report on a 13-year-old girl, known with the Xp11.22-p11.23 duplication syndrome, who presented with severe non-para …
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H. Wang Q, et al. BMC Med Genomics. 2020 May 7;13(1):66. doi: 10.1186/s12920-020-0728-8. BMC Med Genomics. 2020. PMID: 32381089 Free PMC article.
BACKGROUND: Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ID. Currently, …
BACKGROUND: Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUW …
A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
Holden ST, Clarkson A, Thomas NS, Abbott K, James MR, Willatt L. Holden ST, et al. Am J Med Genet A. 2010 Jul;152A(7):1735-40. doi: 10.1002/ajmg.a.33457. Am J Med Genet A. 2010. PMID: 20578133
Cytogenetic and microsatellite analysis of the patient and her parents showed that she has a de novo duplication of Xp11.22-Xp11.4 on her paternal X chromosome. FISH analysis using fluorescently labeled BACs followed by array analysis including an X tilepath …
Cytogenetic and microsatellite analysis of the patient and her parents showed that she has a de novo duplication of Xp11.22 …
Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder.
Deshmukh SP, Couser NL. Deshmukh SP, et al. Int J Mol Epidemiol Genet. 2023 Oct 15;14(3):34-41. eCollection 2023. Int J Mol Epidemiol Genet. 2023. PMID: 38021253 Free PMC article. Review.
MRXST is caused by pathogenic variants in the HUWE1 gene on chromosome Xp11.22. The HUWE1 gene encodes a ubiquitin ligase, which has downstream effects on the n-MYC protein and DLL3 Notch ligand, ultimately affecting neuronal differentiation. ...Furthermore, we note …
MRXST is caused by pathogenic variants in the HUWE1 gene on chromosome Xp11.22. The HUWE1 gene encodes a ubiquitin ligase, whi …
36 results