scholarly journals Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

2014 ◽  
pp. 45-55 ◽  
Author(s):  
S. El Chehadeh ◽  
C. Bonnet ◽  
P. Callier ◽  
M. Béri ◽  
T. Dupré ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Metabolic Markers ◽  
Intragenic Duplication

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 Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Jun Miyazaki ◽  
Mayuko Ito ◽  
Haruki Nishizawa ◽  
Takema Kato ◽  
Yukito Minami ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Intragenic Duplication

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 Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

2019 ◽  
Vol 21 (8) ◽  
pp. 1790-1796 ◽  
Author(s):  
Zafar Iqbal ◽  
Hasan Tawamie ◽  
Wei Ba ◽  
André Reis ◽  
Bassam Al Halak ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Loss Of Function

scholarly journals RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Brain ◽  
2020 ◽  
Vol 143 (4) ◽  
pp. e31-e31
Author(s):  
Marcello Scala ◽  
Majid Mojarrad ◽  
Saima Riazuddin ◽  
Karlla W Brigatti ◽  
Zineb Ammous ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Loss Of Function

scholarly journals Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 1021
Author(s):  
Amjad Khan ◽  
Zhichao Miao ◽  
Muhammad Umair ◽  
Amir Ullah ◽  
Mohammad A. Alshabeeb ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Secondary Structure ◽  
Homology Modeling ◽  
Exome Sequencing ◽  
In Silico ◽  
Brain Function ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Wild Type ◽  
Genetic Condition

Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID: NDST1 (c.1966G>A; p.Asp656Asn) and METTL23 (c.310T>C; p.Phe104Leu). The segregation of the variants was validated by Sanger sequencing in all family members. In silico homology modeling of wild-type and mutated proteins revealed substantial changes in the secondary structure of both proteins, indicating a possible effect on function. The identification and validation of new pathogenic NDST1 and METTL23 variants in two cases of autosomal recessive ID further highlight the importance of these genes in proper brain function and development.

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