Caudal duplication syndrome: a literature review and reappraisal of its pathoembryogenesis
Sign Up to like & getrecommendations! Published in 2021 at "Child's Nervous System"
DOI: 10.1007/s00381-021-05166-z
Abstract: The term caudal duplication syndrome (CDS) was first introduced for complex anomalies of the distal caudal end of the trunk. The pathoembryogenesis of CDS is yet unknown, although a few theories have been proposed. We… read more here.
Keywords: literature; duplication; duplication syndrome; mesenchyme ... See more keywords
Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan
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DOI: 10.1016/j.jns.2021.117321
Abstract: This study aimed to elucidate the clinical characteristics of MECP2 duplication syndrome (MDS), particularly at initial presentation, and to provide clinical clues for the early diagnosis of this condition. We conducted a nationwide survey for… read more here.
Keywords: mecp2 duplication; diagnosis; nationwide survey; early diagnosis ... See more keywords
Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies
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DOI: 10.1016/s1474-4422(20)30217-9
Abstract: The X-linked gene encoding MECP2 is involved in two severe and complex neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett syndrome, whereas duplications of the MECP2 locus cause MECP2 duplication syndrome. Research… read more here.
Keywords: duplication syndrome; mecp2 duplication; advances understanding; mecp2 ... See more keywords
Genetic Reduction or Negative Modulation of mGlu7 Does Not Impact Anxiety and Fear Learning Phenotypes in a Mouse Model of MECP2 Duplication Syndrome.
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DOI: 10.1021/acschemneuro.7b00414
Abstract: Rett syndrome and MECP2 Duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-CpG-binding protein 2 (MeCP2), respectively. We recently reported decreased expression and function of the metabotropic… read more here.
Keywords: mecp2 duplication; duplication; mglu7; duplication syndrome ... See more keywords
Expanding the clinical picture of the MECP2 Duplication syndrome
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DOI: 10.1111/cge.12814
Abstract: Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and… read more here.
Keywords: mecp2 duplication; expanding clinical; duplication; duplication syndrome ... See more keywords
Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance
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DOI: 10.1111/cge.14303
Abstract: The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five… read more here.
Keywords: duplication syndrome; copy; mediated xq28; xq28 duplication ... See more keywords
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
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DOI: 10.1126/scitranslmed.aaz7785
Abstract: Antisense oligonucleotides are efficacious and safe in a humanized mouse model of MECP2 duplication syndrome. A SOlution for MDS in humanized mice MECP2 duplication syndrome (MDS) is a genetic disorder characterized by severe intellectual disability,… read more here.
Keywords: mecp2 duplication; model; duplication syndrome; mouse model ... See more keywords
Cortisol profiles and clinical severity in MECP2 duplication syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurodevelopmental Disorders"
DOI: 10.1186/s11689-020-09322-5
Abstract: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder primarily affecting males which is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Core clinical features of MDS include choreiform movements, progressive… read more here.
Keywords: mecp2 duplication; severity; duplication syndrome; clinical severity ... See more keywords
Prenatal identification of partial 3q duplication syndrome
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DOI: 10.1186/s12920-019-0547-y
Abstract: BackgroundThe 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences… read more here.
Keywords: duplication; identification partial; prenatal identification; duplication syndrome ... See more keywords
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation
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DOI: 10.1186/s13052-019-0690-2
Abstract: BackgroundCongenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was… read more here.
Keywords: congenital nephrotic; 22q11 duplication; duplication syndrome; syndrome ... See more keywords
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
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DOI: 10.1212/nxg.0000000000000549
Abstract: Paroxysmal kinesigenic dyskinesia (PKD) (MIM# 128200) is a movement disorder characterized by brief episodes of involuntary movements consisting of dystonia, chorea, or myoclonus, usually triggered by sudden voluntary movements.1 Pathogenic variants in PRRT2 (MIM# 614386),… read more here.
Keywords: duplication syndrome; paroxysmal kinesigenic; chromosome 16p11; kinesigenic dyskinesia ... See more keywords