Understanding the phenotypic spectrum of ASXL ‐related disease: Ten cases and a review of the literature

2021 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Holly A. Dubbs ◽  
Laura Adang ◽  
Steven L. Kugler ◽  
Elizabeth M. McCormick ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Related Disease ◽  
Phenotypic Spectrum

A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

2021 ◽  
Author(s):  
Muhammet Furkan Korkmaz ◽  
Arzu Ekici ◽  
Orhan Görükmez
Keyword(s):  
Medical Staff ◽  
Autosomal Dominant ◽  
Clinical Aspect ◽  
Review Of The Literature ◽  
Girl Child ◽  
Phenotypic Spectrum ◽  
Novel Variant ◽  
Child Patient

AbstractMutations in ANO3 have recently been identified as an autosomal dominant cause of dystonia (dystonia-24). Since then, the phenotypic spectrum has also been extended in children. Here, we reported a case of a 10-year-old Turkish girl child patient with a novel variant (NM_001313726: c.221dupA, p.Tyr74*), who exhibited tremor with mild dystonia. This report expands the phenotype caused by ANO3 variants and reveals an essential clinical aspect for patients and medical staff.

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

2018 ◽  
Vol 34 (2) ◽  
pp. 86-93 ◽  
Author(s):  
John C. Herriges ◽  
Ellen M. Arch ◽  
Pamela A. Burgio ◽  
Erin E. Baldwin ◽  
Danielle LaGrave ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Learning Difficulties ◽  
Growth Failure ◽  
Speech Delay ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Additional Insight ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum ◽  
Insight Into

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.

IgG4-related disease of the ureter: report of two cases and review of the literature

2013 ◽  
Vol 462 (6) ◽  
pp. 673-678 ◽  
Author(s):  
Alessandro Marando ◽  
Gioacchino D’Ambrosio ◽  
Francesco Catanzaro ◽  
Stefano La Rosa ◽  
Fausto Sessa
Keyword(s):  
Review Of The Literature ◽  
Related Disease ◽  
Igg4 Related Disease

The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature

2021 ◽  
Author(s):  
Walid Fazeli ◽  
Daniel Bamborschke ◽  
Abubakar Moawia ◽  
Somayeh Bakhtiari ◽  
Abbas Tafakhori ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Phenotypic Spectrum

scholarly journals A rare presentation of IgG4 related disease as a gastric antral lesion: Case report and review of the literature

2018 ◽  
Vol 51 ◽  
pp. 244-247 ◽  
Author(s):  
Ali Bohlok ◽  
Melody El Khoury ◽  
Berenice Tulelli ◽  
Laurine Verset ◽  
Anthony Zaarour ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Rare Presentation ◽  
Related Disease ◽  
Igg4 Related Disease

scholarly journals Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

2019 ◽  
Vol 18 (2) ◽  
pp. 265-270 ◽  
Author(s):  
Katherine Keenan ◽  
Annie Dupuis ◽  
Katherine Griffin ◽  
Carlo Castellani ◽  
Elizabeth Tullis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Related Disease ◽  
Phenotypic Spectrum ◽  
Spectrum Of Patients

scholarly journals Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature

2019 ◽  
Vol 09 (02) ◽  
pp. 117-120
Author(s):  
Pavalan Selvam ◽  
Shekhar Singh ◽  
Angita Jain ◽  
Herjot Atwal ◽  
Paldeep S. Atwal
Keyword(s):  
Sequence Analysis ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum ◽  
Whole Exome ◽  
The Family ◽  
Type Xi Collagen ◽  
Exome Sequence

AbstractOtospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On whole exome sequence analysis of the family via commercially available methods, we detected two novel heterozygous pathogenic variants in the proband. In addition, we reviewed the phenotype of autosomal recessive OSMED cases with COL11A2 pathogenic variants reported to date and quantitatively highlighted the phenotypic spectrum.

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