scholarly journals TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

2012 ◽  
Vol 21 (2) ◽  
pp. 229-232 ◽  
Author(s):  
Giuseppe Marangi ◽  
Vincenzo Leuzzi ◽  
Filippo Manti ◽  
Serena Lattante ◽  
Daniela Orteschi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Clinical Phenotype ◽  
New Mutation

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

scholarly journals The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations

2016 ◽  
Vol 80 (6) ◽  
pp. 342-368 ◽  
Author(s):  
Muzammil Ahmad Khan ◽  
Saadullah Khan ◽  
Christian Windpassinger ◽  
Muhammad Badar ◽  
Zafar Nawaz ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Molecular Genetics ◽  
Autosomal Recessive

Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

2013 ◽  
Vol 85 (4) ◽  
pp. 390-392
Author(s):  
S. Dad ◽  
E. Østergaard ◽  
K.A. Wadt ◽  
J. Lunding ◽  
H. Eiberg ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Consanguineous Family

scholarly journals Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0208324 ◽  
Author(s):  
Megan McSherry ◽  
Katherine E. Masih ◽  
Nursel H. Elcioglu ◽  
Pelin Celik ◽  
Ozge Balci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Pathogenic Variants

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 Monogenic Causes of Strokes

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1855
Author(s):  
Justyna Chojdak-Łukasiewicz ◽  
Edyta Dziadkowiak ◽  
Sławomir Budrewicz
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Small Vessel Disease ◽  
Clinical Phenotype ◽  
Single Gene ◽  
Monogenic Disorders ◽  
Single Gene Disorders ◽  
Appropriate Therapy

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

scholarly journals Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

2020 ◽  
Author(s):  
Mami Shibata ◽  
Atsushi Ishii ◽  
Ayako Goto ◽  
Shinichi Hirose
Keyword(s):  
Distribution Function ◽  
Intellectual Disability ◽  
Cumulative Distribution Function ◽  
Clinical Phenotype ◽  
Cytoplasmic Domain ◽  
Cumulative Distribution ◽  
Clinical Implications ◽  
Healthy Individuals ◽  
Conserved Domains

AbstractMissense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron–exon boundaries of PCDH19 in our cohort. We investigated the distribution of each type of variant using the cumulative distribution function and tested for associations between variant types and phenotypes. The distribution of missense variants in patients was clearly different from that of healthy individuals and was uniform throughout the extracellular cadherin (EC) domain, which consisted of six highly conserved domains. Truncating variants showed two types of distributions: (1) located from EC domain 1 to EC domain 4, and (2) located from EC domain 5 to the cytoplasmic domain. Furthermore, we also found that later onset seizures and milder intellectual disability occurred in patients with truncating variants located from EC domain 5 to the cytoplasmic domain compared with those of patients with other variants. Our findings provide the first evidence of two types of truncating variants in the PCDH19 gene with regard to distribution and the resulting clinical phenotype.

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