TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

2022 ◽  
Author(s):  
Silvia Radenkovic ◽  
Diego Martinelli ◽  
Yuebo Zhang ◽  
Graeme J. Preston ◽  
Arianna Maiorana ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Disorder ◽  
Dysmorphic Features ◽  
Congenital Disorder Of Glycosylation

scholarly journals Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case

2020 ◽  
Vol 8 ◽  
pp. 232470962095777 ◽  
Author(s):  
Maria Elena Romero-Ibarguengoitia ◽  
Consuelo Cantú-Reyna ◽  
Dalia Gutierrez-González ◽  
Héctor Cruz-Camino ◽  
Arnulfo González-Cantú ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Variants ◽  
Therapeutic Approaches ◽  
Multisystem Disorder ◽  
Related Disorder ◽  
Dysmorphic Features ◽  
The Third ◽  
The Central Nervous System ◽  
Mexican Patient

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum

2021 ◽  
Author(s):  
Ignacio Arroyo Carrera ◽  
Miguel Fernández‐Burriel ◽  
Pablo Lapunzina ◽  
Jair Antonio Tenorio ◽  
Verónica Deyanira García Navas ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Variant ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

2009 ◽  
Vol 30 (5) ◽  
pp. 795-803 ◽  
Author(s):  
Ana I. Vega ◽  
Celia Pérez-Cerdá ◽  
Lourdes R. Desviat ◽  
Gert Matthijs ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
New Therapy ◽  
Splicing Mutations ◽  
Type Ia

scholarly journals Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

2021 ◽  
Author(s):  
Aleksandra Jakubiak ◽  
Krzysztof Szczałuba ◽  
Magdalena Badura-Stronka ◽  
Anna Kutkowska-Kaźmierczak ◽  
Anna Jakubiuk-Tomaszuk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Hirschsprung Disease ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

2006 ◽  
Vol 148 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Steven M. Schade van Westrum ◽  
Paul J. Nederkoorn ◽  
P. Richard Schuurman ◽  
Tom Vulsma ◽  
Marinus Duran ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

2011 ◽  
Vol 158A (1) ◽  
pp. 50-58 ◽  
Author(s):  
Elvera Sofos ◽  
Matthew F. Pescosolido ◽  
Jose B. Quintos ◽  
Dianne Abuelo ◽  
Shelly Gunn ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Dysmorphic Features

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.

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