HomozygousCRYBB1Deletion Mutation Underlies Autosomal Recessive Congenital Cataract

2007 ◽  
Vol 48 (5) ◽  
pp. 2208 ◽  
Author(s):  
David Cohen ◽  
Udy Bar-Yosef ◽  
Jaime Levy ◽  
Libe Gradstein ◽  
Nadav Belfair ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract

A Homozygous Splice Mutation in theHSF4Gene Is Associated with an Autosomal Recessive Congenital Cataract

2004 ◽  
Vol 45 (8) ◽  
pp. 2716 ◽  
Author(s):  
Nizar Smaoui ◽  
Omar Beltaief ◽  
Sonia BenHamed ◽  
Ridha M’Rad ◽  
Faouzi Maazoul ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Splice Mutation

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

2021 ◽  
Author(s):  
Yosra Bouyacoub ◽  
Cyrine Drissi ◽  
Ichraf Kraoua ◽  
Mariem Chargui ◽  
Ibtihel Rebai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Neurologic Impairment ◽  
Tunisian Patients ◽  
Myelin Deficiency ◽  
The Brain ◽  
Genotype Correlation

AbstractHypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype–genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.

scholarly journals INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family

2018 ◽  
Vol 93 (3) ◽  
pp. 682-686 ◽  
Author(s):  
S. Yousaf ◽  
S.A. Sheikh ◽  
S. Riazuddin ◽  
A.M. Waryah ◽  
Z.M. Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Pakistani Family

scholarly journals Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops)

2018 ◽  
Vol 47 (2) ◽  
pp. 93-100 ◽  
Author(s):  
Zandisiwe E. Magwebu ◽  
Sahar Abdul-Rasool ◽  
Jürgen V. Seier ◽  
Chesa G. Chauke
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Vervet Monkeys ◽  
Chlorocebus Aethiops

Autosomal recessive congenital cataract, intellectual disability phenotype linked toSTX3in a consanguineous Tunisian family

2014 ◽  
Vol 88 (3) ◽  
pp. 283-287 ◽  
Author(s):  
M. Chograni ◽  
F.S. Alkuraya ◽  
I. Ourteni ◽  
F. Maazoul ◽  
I. Lariani ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Tunisian Family

scholarly journals SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

2015 ◽  
Vol 23 (12) ◽  
pp. 1627-1633 ◽  
Author(s):  
Christina Evers ◽  
Nagarajan Paramasivam ◽  
Katrin Hinderhofer ◽  
Christine Fischer ◽  
Martin Granzow ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Novel Gene ◽  
Whole Exome

Autosomal recessive cataract (CTRCT18) in Yakutia: results of molecular genetic studies

2020 ◽  
pp. 35-37
Author(s):  
Н.А. Барашков ◽  
Ф.А. Коновалов ◽  
А.М. Чердонова ◽  
Т.В. Борисова ◽  
А.В. Соловьев ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Sakha Republic

В работе представлены результаты молекулярно-генетических исследований врожденной формы катаракты (CTRCT18, MIM 610019), распространенной в Якутии. We present the results of molecular genetic studies of the congenital cataract (CTRCT18, MIM 610019) common in the Sakha Republic of Russia.

scholarly journals Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

Genes ◽  
2018 ◽  
Vol 9 (2) ◽  
pp. 112 ◽  
Author(s):  
Shazia Micheal ◽  
Ilse Niewold ◽  
Sorath Siddiqui ◽  
Saemah Zafar ◽  
Muhammad Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Autosomal Dominant ◽  
Recessive Mutation ◽  
Autosomal Recessive Mutation

scholarly journals Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families

2012 ◽  
Vol 02 (03) ◽  
pp. 64-70 ◽  
Author(s):  
Manèl Chograni ◽  
Myriam Chaabouni ◽  
Faouzi Maazoul ◽  
Habiba Chaabouni Bouhamed
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
The Brain

scholarly journals A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract

2015 ◽  
Vol 61 (2) ◽  
pp. 177-179 ◽  
Author(s):  
Mahdiyeh Behnam ◽  
Eri Imagawa ◽  
Ahmad Reza Salehi Chaleshtori ◽  
Firooze Ronasian ◽  
Mansoor Salehi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Homozygous Mutation
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