scholarly journals Characterization of a Putative Founder Mutation that Accounts for the High Incidence of Cystinosis in Brittany

2001 ◽  
Vol 12 (10) ◽  
pp. 2170-2174
Author(s):  
VASILIKI KALATZIS ◽  
STÉPHANIE CHERQUI ◽  
GENEVIÈVE JEAN ◽  
BÉATRICE CORDIER ◽  
PIERRE COCHAT ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Pcr Amplification ◽  
Splice Site Mutation ◽  
Autosomal Recessive Disorder ◽  
Site Mutation ◽  
Live Births ◽  
Reverse Transcription Pcr ◽  
High Incidence

Abstract. Cystinosis is an autosomal recessive disorder, characterized by an accumulation of intralysosomal cystine, with an incidence of 1 in 100,000 to 200,000 live births. A higher incidence of cystinosis, 1 in 26,000 live births, has been reported in the western French province of Brittany. PCR amplification and sequencing has identified a 27-bp deletion starting 3 bp before the end of exon 8 and continuing into intron 8, 898-900+24del27, which has only been detected in families from this region. Reverse transcription—PCR amplification of RNA from an affected individual has shown that this mutation is indeed a splice-site mutation and results in the production of aberrant transcripts. These transcripts are predicted to either severely truncate cystinosin or alter its topology, thus accounting for the severe phenotype of these individuals. The mutation 898-900+24del27 has been identified in 7 of 18 alleles studied. This mutation is likely to be a founder mutation and would account for the higher incidence of cystinosis in Brittany.1

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
M. N. Preising ◽  
C. Friedburg ◽  
W. Bowl ◽  
B. Lorenz
Keyword(s):  
Visual Acuity ◽  
High Myopia ◽  
Autosomal Recessive ◽  
Electrical Coupling ◽  
Splice Site Mutation ◽  
Bipolar Cells ◽  
Night Vision ◽  
Site Mutation ◽  
Frequent Finding ◽  
Biallelic Mutations

In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction. While the genetic cause of high myopia itself is not well understood, a significant number of cases are secondary to hereditary malfunctions or degenerations of the retina. The mechanism by which this occurs remains yet unclear. Two female siblings, 4 y and 2 y, respectively, from a consanguineous Pakistani family were referred to our department for reduced VA and strabismus. Both girls were highly myopic and hence were further examined using standard clinical tests and electroretinography (ERG). The latter confirmed confounded electrical coupling of photoreceptors and bipolar cells. Further inquiry and testing confirmed a similar condition for the father including impaired night vision, reduced VA, photophobia, and an equally characteristic ERG. Findings in the mother were unremarkable. Subsequent genetic analysis of autosomal recessive and X-linked genes for congenital stationary night blindness (CSNB) revealed a novel homozygous splice site mutation in CACNA1F in the two girls transmitted from both the father and the mother. While in males the above clinical constellation is a frequent finding, this report, to the authors’ knowledge, is the first demonstrating biallelic mutations at the CACNA1F locus in females.

A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

2004 ◽  
Vol 116 (1-2) ◽  
pp. 114-120 ◽  
Author(s):  
Samuel Canizales-Quinteros ◽  
Carlos A. Aguilar-Salinas ◽  
Adriana Huertas-Vázquez ◽  
María L. Ordóñez-Sánchez ◽  
Maribel Rodríguez-Torres ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Recessive Hypercholesterolemia

scholarly journals Vitamin D 1α-Hydroxylase Gene Mutations in Patients with 1α-Hydroxylase Deficiency

2007 ◽  
Vol 92 (8) ◽  
pp. 3177-3182 ◽  
Author(s):  
Chan Jong Kim ◽  
Larry E. Kaplan ◽  
Farzana Perwad ◽  
Ningwu Huang ◽  
Amita Sharma ◽  
...  
Keyword(s):  
Vitamin D ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Splice Site Mutation ◽  
Autosomal Recessive Disorder ◽  
The United States ◽  
Site Mutation ◽  
Hydroxylase Deficiency ◽  
Exon 2 ◽  
Hydroxylase Gene

Abstract Context: Vitamin D 1α-hydroxylase deficiency, also known as vitamin D-dependent rickets type 1, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia and is caused by mutations of the 25-hydroxyvitamin D 1α-hydroxylase (1α-hydroxylase, CYP27B1) gene. The human gene encoding the 1α-hydroxylase is 5 kb in length, located on chromosome 12, and comprises nine exons and eight introns. We previously isolated the human 1α-hydroxylase cDNA and gene and identified 19 different mutations in 25 patients with 1α-hydroxylase deficiency. Objectives, Patients, and Methods: We analyzed the 1α-hydroxylase gene of 10 patients, five from Korea, two from the United States, and one each from Argentina, Denmark, and Morocco, all from nonconsanguineous families. Each had clinical and radiographic features of rickets, hypocalcemia, and low serum concentrations of 1,25-dihydroxyvitamin D3. Results: Direct sequencing identified the responsible 1α-hydroxylase gene mutations in 19 of 20 alleles. Four novel and four known mutations were identified. The new mutations included a nonsense mutation in exon 6, substitution of adenine for guanine (2561G→A) creating a stop signal at codon 328; deletion of adenine in exon 9 (3922delA) causing a frameshift; substitution of thymine for cytosine in exon 2 (1031C→T) causing the amino acid change P112L; and a splice site mutation, substitution of adenine for guanine in the first nucleotide of intron 7 (IVS7+1 G→A) causing a frameshift. Conclusions: Mutations in the 1α-hydroxylase gene previously were identified in 44 patients, to which we add 10 more. The studies show a strong correlation between 1α-hydroxylase mutations and the clinical findings of 1α-hydroxylase deficiency.

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

1997 ◽  
Vol 236 (3) ◽  
pp. 544-548 ◽  
Author(s):  
Ellen A.C.M. van Beurden ◽  
Michelle de Graaf ◽  
Udo Wendel ◽  
Richard Gitzelmann ◽  
Ruud Berger ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Phosphorylase Kinase ◽  
Site Mutation ◽  
Gene Encoding ◽  
Gamma Subunit

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

2010 ◽  
Vol 162 (6) ◽  
pp. 1384-1387 ◽  
Author(s):  
C. Covaciu ◽  
M. Castori ◽  
N. De Luca ◽  
P. Ghirri ◽  
A. Nannipieri ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Site Mutation ◽  
Donor Splice ◽  
Epidermolytic Ichthyosis
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