Novel missense alteration in LRP4 gene underlies Cenani–Lenz syndactyly syndrome in a consanguineous family

2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Nuha Alrayes ◽  
Abdul Aziz ◽  
Farman Ullah ◽  
Muhammad Ishfaq ◽  
Musharraf Jelani ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Lrp4 Gene ◽  
Missense Alteration

Autosomal Recessive Non-syndromic Keratoconus: Homozygous Frameshift Variant in the Candidate Novel Gene GALNT14

2019 ◽  
Vol 19 (9) ◽  
pp. 683-687 ◽  
Author(s):  
Tawfiq Froukh ◽  
Ammar Hawwari
Keyword(s):  
Strong Evidence ◽  
Autosomal Recessive ◽  
Eye Diseases ◽  
Initial Reaction ◽  
Genetic Contribution ◽  
Loss Of Function ◽  
Consanguineous Family ◽  
Truncated Protein ◽  
Threonine Residue ◽  
Whole Exome

Background: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical. Despite the strong evidence of genetic contribution in KC, the etiology of KC is not understood in most cases. Methods: In this study, we used whole-exome sequencing to identify the genetic cause of KC in two sibs in a consanguineous family. The Homozygous frameshift variant NM_001253826.1:c.60delC;p.Leu21Cysfs*6 was identified in the gene Nacetylgalactosaminyltransferase 14 (GALNT14). The variant does not exist in all public databases neither in our internal exome database. Moreover, no database harbours homozygous loss of function variants in the candidate gene. Result: GALNT14 catalyses the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on target proteins especially Mucins. Conclusion: As alterations of mucin’s glycosylation are linked to a number of eye diseases, we demonstrate in this study an association between the truncated protein GALNT14 and KC.

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A

2021 ◽  
Vol 64 (2) ◽  
pp. 104141
Author(s):  
Schaida Schirwani ◽  
Sheila Fraser ◽  
Talat Mushtaq ◽  
Preetha Chengot ◽  
Lampros A. Mavrogiannis ◽  
...  
Keyword(s):  
Consanguineous Family

scholarly journals Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohd Fareed ◽  
Vikas Makkar ◽  
Ravi Angral ◽  
Mohammad Afzal ◽  
Gurdarshan Singh
Keyword(s):  
Nephrotic Syndrome ◽  
Disease Management ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Homozygous Mutation ◽  
Consanguineous Family ◽  
Clinical Prognosis ◽  
Whole Exome ◽  
Recurrent Mutations ◽  
Ckd Stage

AbstractNephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study have been submitted to the ClinVar database and are publicly available online with the accessions: SCV001451361.1, SCV001451725.1 and SCV001451724.1. Based on the patient's clinical history and genomic data with in silico validation, we conclude that pathogenic mutation in the COQ8B gene was causing kidney failure in an autosomal recessive manner. We recommend WES technology for genetic testing in such a consanguineous family to not only prevent the future generation, but early detection can help in disease management and therapeutic interventions.

A novel case of autosomal dominant cutis laxa in a consanguineous family

2017 ◽  
Vol 26 (3) ◽  
pp. 142-147 ◽  
Author(s):  
Mehmet B. Duz ◽  
Emre Kirat ◽  
Paul J. Coucke ◽  
Erkan Koparir ◽  
Alper Gezdirici ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Cutis Laxa ◽  
Consanguineous Family

A novel splice site mutation in gene C2orf37 underlying Woodhouse–Sakati syndrome (WSS) in a consanguineous family of Pakistani origin

Gene ◽  
2011 ◽  
Vol 490 (1-2) ◽  
pp. 26-31 ◽  
Author(s):  
Rabia Habib ◽  
Sulman Basit ◽  
Saadullah Khan ◽  
Muhammad Nasim Khan ◽  
Wasim Ahmad
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Consanguineous Family ◽  
Site Mutation ◽  
Pakistani Origin

Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family

2005 ◽  
Vol 50 (2) ◽  
pp. 237-242 ◽  
Author(s):  
L.M. Paula ◽  
N.S. Melo ◽  
E.N. Silva Guerra ◽  
D.H. Mestrinho ◽  
A.C. Acevedo
Keyword(s):  
Case Report ◽  
Amelogenesis Imperfecta ◽  
Consanguineous Family ◽  
Rare Syndrome

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

Ontogeny of Recurrent Hydrocephalus: Presentation in Three Fetuses in One Consanguineous Family

1999 ◽  
Vol 14 (4) ◽  
pp. 198-200 ◽  
Author(s):  
Teresa B. Brady ◽  
Ralph L. Kramer ◽  
Faisal Qureshi ◽  
Baruch Feldman ◽  
William J. Kupsky ◽  
...  
Keyword(s):  
Consanguineous Family
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