An autosomal recessive CMT family with a new mutation in the NDRG1 gene

2013 ◽  
Vol 333 ◽  
pp. e478
Author(s):  
M.T. Goksungur ◽  
Y. Okamoto ◽  
D. Pehlivan ◽  
Z. Matur ◽  
K. Akyüz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Mutation ◽  
Ndrg1 Gene ◽  
Autosomal Recessive Cmt

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 117-127 ◽  
Author(s):  
Shelisa Tey ◽  
Nortina Shahrizaila ◽  
Alexander P. Drew ◽  
Sarimah Samulong ◽  
Khean-Jin Goh ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Whole Exome ◽  
Autosomal Recessive Cmt

scholarly journals A NEW CHONDRODYSTROPHIC MUTANT IN MICE

1971 ◽  
Vol 48 (3) ◽  
pp. 580-593 ◽  
Author(s):  
R. Seegmiller ◽  
F. C. Fraser ◽  
H. Sheldon
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Long Bones ◽  
Recessive Inheritance ◽  
New Mutation ◽  
Normal Cartilage ◽  
Cartilage Development ◽  
High Penetrance ◽  
The Matrix

The occurrence of a new mutation affecting cartilage and bone in mice is reported. The gene is lethal, shows autosomal recessive inheritance, and has high penetrance. It is not allelic to shorthead and probably not to phocomelia or achondroplasia. It results in a foreshortened face, cleft palate, defective trachea, and shortened long bones with flared metaphyses. Chondrocytes of epiphyseal cartilage from the mutant are not aligned in columns, and there is a decrease in the usual staining of the cartilage matrix. Electron microscope observations show large, wide collagen fibrils with "native" banding in the matrix of mutant cartilage, which are not present in normal cartilage. Possible explanations for the expression of this genetic disorder of cartilage development are put forward.

scholarly journals TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

2012 ◽  
Vol 21 (2) ◽  
pp. 229-232 ◽  
Author(s):  
Giuseppe Marangi ◽  
Vincenzo Leuzzi ◽  
Filippo Manti ◽  
Serena Lattante ◽  
Daniela Orteschi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autosomal Recessive ◽  
Clinical Phenotype ◽  
New Mutation

scholarly journals Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

2006 ◽  
Vol 56 (1) ◽  
Author(s):  
Fernando Morales ◽  
Patricia Cuenca ◽  
Gerardo Del Valle ◽  
Melissa Vásquez ◽  
Roberto Brian ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Autosomal Recessive ◽  
Costa Rican ◽  
New Mutation ◽  
Myotonia Congenita ◽  
Clcn1 Gene

Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

Blood ◽  
2004 ◽  
Vol 104 (7) ◽  
pp. 2181-2183 ◽  
Author(s):  
Thomas Matthes ◽  
Patricia Aguilar-Martinez ◽  
Loredana Pizzi-Bosman ◽  
Régis Darbellay ◽  
Laura Rubbia-Brandt ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Autosomal Recessive ◽  
Iron Absorption ◽  
Hereditary Hemochromatosis ◽  
Negative Regulator ◽  
Initiation Codon ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
New Mutation ◽  
Juvenile Hemochromatosis

Abstract Juvenile hereditary hemochromatosis is a genetically heterogeneous disorder transmitted as an autosomal recessive trait. It is most often caused by mutations in the HJV gene and rarely in the HAMP gene. Hepcidin is considered to constitute a negative regulator of iron absorption, and its production is increased in inflammatory states and iron overload. We report the detection of a new mutation in the HAMP gene leading to juvenile hemochromatosis in 2 members of a Portuguese family. The mutation lies in the 5′-UTR (untranslated region) of the gene and creates a new initiation codon in the context of a Kozak sequence. We found no trace of hepcidin protein in the patients' urine, suggesting that ribosomes select the mutant initiation codon for translation. The decrease of hepcidin production would thus lead to increased iron absorption, resulting in iron deposition in parenchymal tissues. Phlebotomy therapy of the 2 patients resulted in impressive clinical improvement. (Blood. 2004;104: 2181-2183)

scholarly journals Molecular Diagnosis of Analbuminemia: A Novel Mutation Identified in Two Amerindian and Two Turkish Families

2002 ◽  
Vol 48 (6) ◽  
pp. 844-849 ◽  
Author(s):  
Monica Galliano ◽  
Monica Campagnoli ◽  
Antonio Rossi ◽  
Carl Heinz Wirsing von König ◽  
Andrew W Lyon ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Autosomal Recessive Disorder ◽  
Heteroduplex Analysis ◽  
Translation Product ◽  
Amino Acid Residues ◽  
New Mutation ◽  
Single Strand Conformational Polymorphism ◽  
Turkish Origin ◽  
Albumin Gene

Abstract Background: Analbuminemia is a rare autosomal recessive disorder in which individuals have little or no circulating albumin, usually the most abundant plasma protein. We describe a new mutation associated with analbuminemia. Methods: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. The 14 exons and the flanking intron sequences of the albumin gene were amplified by PCR and screened for mutations by single-strand conformational polymorphism and heteroduplex analysis. The mutated DNA fragments were sequenced directly. Results: In all four cases, analbuminemia was caused by the same mutation, an AT deletion at nucleotides 2430–2431, the 91st and 92nd bases of exon 3. This novel defect, named Kayseri, produces a frameshift leading to a premature stop two codons downstream. The predicted translation product would consist of 54 amino acid residues. Conclusions: The AT deletion at nucleotides 2430–2431 is a novel mutation associated with analbuminemia.

A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

2000 ◽  
Vol 289 (1) ◽  
pp. 66-68 ◽  
Author(s):  
Esteban Muñoz ◽  
Pau Pastor ◽  
Marı́a J Martı́ ◽  
Rafael Oliva ◽  
Eduardo Tolosa
Keyword(s):  
Autosomal Recessive ◽  
Parkin Gene ◽  
New Mutation ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism
Sign in / Sign up

Export Citation Format

Share Document