SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families

2021 ◽  
Author(s):  
Sabika Firasat ◽  
Dur-e-Shawar ◽  
Wajid Ali Khan ◽  
Ume Sughra ◽  
Nousheen ◽  
...  
Keyword(s):  
Pakistani Families ◽  
Congenital Hereditary Endothelial Dystrophy

scholarly journals Missense mutation inSLC4A11in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2)

2015 ◽  
Vol 99 (1) ◽  
pp. 73-77 ◽  
Author(s):  
Haiba Kaul ◽  
Maryam Suman ◽  
Zoya Khan ◽  
Muhammad Ikram Ullah ◽  
Usman Ali Ashfaq ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Pakistani Families ◽  
Congenital Hereditary Endothelial Dystrophy

scholarly journals Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

2019 ◽  
Vol 7 (8) ◽  
Author(s):  
Muhammad Muzammal ◽  
Muhammad Zubair ◽  
Sophie Bierbaumer ◽  
Jasmin Blatterer ◽  
Ricarda Graf ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Founder Effect ◽  
Pakistani Families ◽  
Exome Sequence

Perceptions of the causes of childhood disability among Pakistani families living in the UK

2008 ◽  
Vol 16 (6) ◽  
pp. 606-613 ◽  
Author(s):  
E. J. Croot ◽  
G. Grant ◽  
C. L. Cooper ◽  
N. Mathers
Keyword(s):  
Childhood Disability ◽  
The Uk ◽  
Pakistani Families

Polyalamine repeat expansion mutations in theHOXD13gene in Pakistani families with synpolydactyly

2009 ◽  
Vol 76 (3) ◽  
pp. 300-302 ◽  
Author(s):  
M Wajid ◽  
Y Ishii ◽  
M Kurban ◽  
MB Dua-Awereh ◽  
Y Shimomura ◽  
...  
Keyword(s):  
Repeat Expansion ◽  
Pakistani Families

scholarly journals Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

2018 ◽  
Vol 64 (2) ◽  
pp. 153-160 ◽  
Author(s):  
Khurram Liaqat ◽  
◽  
Isabelle Schrauwen ◽  
Syed Irfan Raza ◽  
Kwanghyuk Lee ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Sinoatrial Node ◽  
Pakistani Families ◽  
Sinoatrial Node Dysfunction

scholarly journals Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

2021 ◽  
Vol 38 (1) ◽  
Author(s):  
Ehtisham ul Haq Makhdoom ◽  
Haseeb Anwar ◽  
Shahid Mahmood Baig ◽  
Ghulam Hussain
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Speech Impairment ◽  
Primary Microcephaly ◽  
Rare Mutation ◽  
Homozygous Variant ◽  
Whole Exome ◽  
Pakistani Families

Background & Objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH. Methods: We studied two unrelated consanguineous families (family A and B) presenting >2 patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed whole-exome sequencing (WES) of probands to find putative causal mutations. The candidate variants were further confirmed and analyzed for co-segregation by Sanger sequencing of all available members of each family. This study was conducted at Government College University, Faisalabad, Pakistan, and Cologne Center for Genomics (CCG), University of Cologne, Germany; during 2017-2020. Results: We identified a novel homozygous variant c.10097_10098delGA, p.(Gly3366Glufs*19) in exon 26 of ASPM gene in family A which presents with moderate intellectual disability, speech impairment, visual abnormalities, seizures, and ptyalism. Family B was found to segregate nonsense, homozygous variant c.448C>T p.(Arg150*) in CDK5RAP2. The patients also exhibited mild to severe seizures without ptyalism that has not been previously reported in patients with mutations in the CDK5RAP2 gene. Conclusion: We report a novel mutation in ASPM and ultra-rare mutation in the CDK5RAP2 gene, both causing primary microcephaly. The study expands the mutational spectrum of the ASPM gene to 212, and also adds to the clinical spectrum of CDK5RAP2 mutations. It also demonstrated the utility of WES in the investigation and genetic diagnosis of genetically heterogeneous disorders like MCPH. These findings would aid in diagnostic and preventive strategies including carrier screening, cascade testing, and genetic counselling. doi: https://doi.org/10.12669/pjms.38.1.4464 How to cite this:Makhdoom EH, Anwar H, Baig SM, Hussain G. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families. Pak J Med Sci. 2022;38(1):---------.  doi: https://doi.org/10.12669/pjms.38.1.4464 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Congenital Hereditary Endothelial Dystrophy

2018 ◽  
pp. 477-479
Author(s):  
Abdullmajeed Alfakhri ◽  
Majed Alkharashi
Keyword(s):  
Congenital Hereditary Endothelial Dystrophy
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