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

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

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.

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.

scholarly journals First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

2018 ◽  
Vol 9 ◽  
Author(s):  
Letizia Straniero ◽  
Valeria Rimoldi ◽  
Giulia Soldà ◽  
Melissa Bellini ◽  
Giacomo Biasucci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Dysmorphic Features

scholarly journals Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities

2015 ◽  
Vol 145 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Devin M. Cox ◽  
Merlin G. Butler
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Abnormalities ◽  
Receptor Gene ◽  
Partial Trisomy ◽  
Chromosome Translocation ◽  
Fish Analysis ◽  
Partial Monosomy ◽  
Chronic Anemia ◽  
Dysmorphic Features ◽  
History Of

We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies

2021 ◽  
Vol 21 ◽  
Author(s):  
Molood Safarirad ◽  
Ali Abbaszadeh Ganji ◽  
Saba Fekrvand ◽  
Reza Yazdani ◽  
Ahmad Vosughi Motlagh ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Intellectual Disability ◽  
Definitive Diagnosis ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Rare Congenital Anomaly ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
First Case ◽  
Whole Exome

: Kabuki syndrome is a rare congenital anomaly/mental retardation syndrome characterized by intellectual disability, developmental delay, short stature, facial dysmorphic features including ectropion of the lateral third of the lower eyelids and long palpebral fissures, and prominent finger pads. Pathogenic variants of KMT2D (MLL2) and KDM6A are found to be the major causes of Kabuki syndrome. Here, we report the first Iranian case with Kabuki syndrome with an IQ of 79, two episodes of viral pneumonia and distinctive facial features, prominent ears and persistent fetal fingertip pads. These characteristics raised our suspicion for performing whole-exome sequencing (WES), which revealed 2 heterozygous pathogenic missense variants in the KMT2D gene: c.C10024T in exon 34 leading to p.R3342C and c.G15005A in exon 48 leading to p.R5002Q. Hence, the definitive diagnosis of Kabuki syndrome was made based on molecular findings along with the intellectual disability and characteristic facial features.

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