Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome

2013 ◽  
Vol 161 (9) ◽  
pp. 2294-2299 ◽  
Author(s):  
Scott E. Hickey ◽  
Lauren Walters-Sen ◽  
Theresa Mihalic Mosher ◽  
Ruthann B. Pfau ◽  
Robert Pyatt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Fmr1 Gene ◽  
Obesity Syndrome

scholarly journals Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

2015 ◽  
Vol 36 (10) ◽  
pp. 1015-1019 ◽  
Author(s):  
Catrina M. Loucks ◽  
Jillian S. Parboosingh ◽  
Ranad Shaheen ◽  
Francois P. Bernier ◽  
D. Ross McLeod ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Autosomal Recessive

scholarly journals Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

2018 ◽  
Vol 28 (6) ◽  
pp. 972-979 ◽  
Author(s):  
Muhammad Ansar ◽  
Sohail Aziz Paracha ◽  
Alessandro Serretti ◽  
Muhammad T Sarwar ◽  
Jamshed Khan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Motor Development

Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature

2020 ◽  
pp. jmedgenet-2020-107111
Author(s):  
Eungu Kang ◽  
Minji Kang ◽  
Younghee Ju ◽  
Sang-Joon Lee ◽  
Yong-Seok Lee ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Neuronal Development ◽  
Mapk Pathway ◽  
Heterozygous Mutation ◽  
Erk Activation ◽  
Mapk Activity ◽  
Reduced Body ◽  
Induced Pluripotent ◽  
Erk Activity

BackgroundARID2 belongs to the Switch/sucrose non-fermenting complex, in which the genetic defects have been found in patients with dysmorphism, short stature and intellectual disability (ID). As the phenotypes of patients with ARID2 mutations partially overlap with those of RASopathy, this study evaluated the biochemical association between ARID2 and RAS-MAPK pathway.MethodsThe phenotypes of 22 patients with either an ARID2 heterozygous mutation or haploinsufficiency were reviewed. Comprehensive molecular analyses were performed using somatic and induced pluripotent stem cells (iPSCs) of a patient with ARID2 haploinsufficiency as well as using the mouse model of Arid2 haploinsufficiency by CRISPR/Cas9 gene editing.ResultsThe phenotypic characteristics of ARID2 deficiency include RASopathy, Coffin-Lowy syndrome or Coffin-Siris syndrome or undefined syndromic ID. Transient ARID2 knockout HeLa cells using an shRNA increased ERK1 and ERK2 phosphorylation. Impaired neuronal differentiation with enhanced RAS-MAPK activity was observed in patient-iPSCs. In addition, Arid2 haploinsufficient mice exhibited reduced body size and learning/memory deficit. ARID2 haploinsufficiency was associated with reduced IFITM1 expression, which interacts with caveolin-1 (CAV-1) and inhibits ERK activation.DiscussionARID2 haploinsufficiency is associated with enhanced RAS-MAPK activity, leading to reduced IFITM1 and CAV-1 expression, thereby increasing ERK activity. This altered interaction might lead to abnormal neuronal development and a short stature.

scholarly journals Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

2018 ◽  
Vol 21 (1) ◽  
pp. 83-86
Author(s):  
M Budisteanu ◽  
N Bögershausen ◽  
SM Papuc ◽  
S Moosa ◽  
M Thoenes ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
Clinical Features ◽  
Rare Condition ◽  
Bone Age ◽  
Speech Development ◽  
Speech Delay ◽  
Mild Intellectual Disability ◽  
Intensive Program ◽  
Floating Harbor Syndrome

Abstract Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.

scholarly journals De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019 ◽  
Vol 104 (4) ◽  
pp. 758-766 ◽  
Author(s):  
Illja J. Diets ◽  
Roos van der Donk ◽  
Kristina Baltrunaite ◽  
Esmé Waanders ◽  
Margot R.F. Reijnders ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Short Stature ◽  
De Novo ◽  
Facial Dysmorphism ◽  
Pathogenic Variants

scholarly journals New Targeted Treatments for Fragile X Syndrome

2019 ◽  
Vol 15 (4) ◽  
pp. 251-258 ◽  
Author(s):  
Dragana Protic ◽  
Maria J. Salcedo-Arellano ◽  
Jeanne Barbara Dy ◽  
Laura A. Potter ◽  
Randi J. Hagerman
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Behavioral Problems ◽  
Rna Binding ◽  
Fragile X ◽  
Symptomatic Treatment ◽  
Fmr1 Gene ◽  
Fragile X Mental Retardation ◽  
Cgg Repeats

Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability with prevalence rates estimated to be 1:5,000 in males and 1:8,000 in females. The increase of >200 Cytosine Guanine Guanine (CGG) repeats in the 5’ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene results in transcriptional silencing on the FMR1 gene with a subsequent reduction or absence of fragile X mental retardation protein (FMRP), an RNA binding protein involved in the maturation and elimination of synapses. In addition to intellectual disability, common features of FXS are behavioral problems, autism, language deficits and atypical physical features. There are still no currently approved curative therapies for FXS, and clinical management continues to focus on symptomatic treatment of comorbid behaviors and psychiatric problems. Here we discuss several treatments that target the neurobiological pathway abnormal in FXS. These medications are clinically available at present and the data suggest that these medications can be helpful for those with FXS.

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