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 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

2014 ◽  
Vol 23 (22) ◽  
pp. 5940-5949 ◽  
Author(s):  
Muzammil A. Khan ◽  
Verena M. Rupp ◽  
Meritxell Orpinell ◽  
Muhammad S. Hussain ◽  
Janine Altmüller ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Neurogenetics ◽  
2011 ◽  
Vol 12 (3) ◽  
pp. 247-251 ◽  
Author(s):  
Shoaib ur Rehman ◽  
Shahid Mahmood Baig ◽  
Hans Eiberg ◽  
Sijad ur Rehman ◽  
Ilyas Ahmad ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Pakistani Family ◽  
Autozygosity Mapping

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 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

scholarly journals A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p

2010 ◽  
Vol 149 (5) ◽  
pp. 861-866 ◽  
Author(s):  
Shagufta Naz ◽  
S. Amer Riazuddin ◽  
Lin Li ◽  
Mariam Shahid ◽  
Samra Kousar ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Pakistani Family

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
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