scholarly journals Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review

2017 ◽  
Vol 9 ◽  
pp. 117957351773752 ◽  
Author(s):  
Majid Alfadhel
Keyword(s):  
Poor Prognosis ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Novel Mutation ◽  
High Dose ◽  
Solute Carrier Family ◽  
Gene Defect ◽  
The Common ◽  
Solute Carrier ◽  
Gene Defects

Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families

2021 ◽  
pp. bjophthalmol-2020-318204
Author(s):  
Zohra Chibani ◽  
Imen Zone Abid ◽  
Peter Söderkvist ◽  
Jamel Feki ◽  
Mounira Hmani Aifa
Keyword(s):  
Autosomal Recessive ◽  
Corneal Transplantation ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Corneal Dystrophy ◽  
Solute Carrier Family ◽  
Transporter Protein ◽  
Bicarbonate Transporter ◽  
Corneal Clouding ◽  
Solute Carrier

BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).MethodsTo identify SLC4A11 gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.ResultsA novel deletion SLC4A11 mutation (p. Leu479del; c.1434_1436del) is responsible for CHED in both analysed families. This non-frameshift mutation was found in a homozygous state in affected members and heterozygous in non-affected members. In silico analysis largely support the pathogenicity of this alteration that may leads to stromal oedema by disrupting the osmolarity balance. Being localised to a region of alpha-helical secondary structure, Leu479 deletion may induce protein-compromising structural rearrangements.ConclusionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype–phenotype correlations.

scholarly journals Effect of a Phytogenic Water Additive on Growth Performance, Blood Metabolites and Gene Expression of Amino Acid Transporters in Nursery Pigs Fed with Low-Protein/High-Carbohydrate Diets

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 555
Author(s):  
Cedrick N. Shili ◽  
Mohammad Habibi ◽  
Julia Sutton ◽  
Jessie Barnes ◽  
Jacob Burch-Konda ◽  
...  
Keyword(s):  
Growth Performance ◽  
Low Dose ◽  
Average Daily Gain ◽  
High Dose ◽  
Amino Acid Transporters ◽  
Solute Carrier Family ◽  
Nursery Pigs ◽  
High Carbohydrate ◽  
Low Protein ◽  
Solute Carrier

The objective of this study was to investigate the effect of a phytogenic water additive (PWA) on growth performance and underlying factors involved in pigs fed with low-protein (LP)/high-carbohydrate diets. Forty-eight weaned barrows were allotted to six treatments for 4 weeks: CON-NS, control (CON) diet-no PWA; CON-LS, CON diet-low dose PWA (4 mL/L); CON-HS, CON diet-high dose PWA (8 mL/L); LP-NS, LP diet-no PWA; LP-LS, LP diet-low dose PWA; LP-HS, LP diet-high dose PWA. Relative to CON-NS, pigs fed with CON-HS had increased average daily gain, body weight and serum calcium (Ca) and phosphorous (P) and had decreased mRNA abundance of solute carrier family 7 member 11 and solute carrier family 6 member 19 in jejunum. Compared to LP-NS, pigs fed with LP-HS had increased muscle lean%, decreased muscle fat%, decreased serum Ca and increased serum P. Compared to their NS counterparts, CON-LS, CON-HS, and LP-LS increased the concentration of plasma essential AA and those fed with CON-HS and LP-HS tended to reduce the abundance of the solute carrier family 7 member 1 transcript in skeletal muscle. Thus, PWA improved the performance of weaned pigs fed with protein-adequate diets likely through increased blood essential AA and affected the muscle composition when dietary protein was deficient.

scholarly journals Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

2015 ◽  
Vol 128 (10) ◽  
pp. 1336-1339 ◽  
Author(s):  
Jia-Wei Liu ◽  
Nuo Si ◽  
Lian-Qing Wang ◽  
Ti Shen ◽  
Xue-Jun Zeng ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Patient ◽  
Solute Carrier Family ◽  
Solute Carrier

scholarly journals A Novel Homozygous p.L539F Mutation Identified inPINK1Gene in a Moroccan Patient with Parkinsonism

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Rafiqua Ben El Haj ◽  
Wafaa Regragui ◽  
Rachid Tazi-Ahnini ◽  
Asmae Skalli ◽  
Naima Bouslam ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Autosomal Recessive ◽  
Matched Control ◽  
Neurodegenerative Disorder ◽  
Novel Mutation ◽  
Chromosomal Microarray ◽  
Rapid Progression ◽  
Chromosomal Microarray Analysis ◽  
Terminal Sequence

Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson’s disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L/F at position 539 located in highly conserved motif in the C terminal sequence ofPINK1. Interestingly, the c.1617G>C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson’s disease with rapid progression and early cognitive impairment.

Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation–Related Autosomal Recessive Distal Renal Tubular Acidosis

2018 ◽  
Vol 50 (1) ◽  
pp. 78-86 ◽  
Author(s):  
Nipaporn Deejai ◽  
Suwannee Wisanuyotin ◽  
Choochai Nettuwakul ◽  
Sookkasem Khositseth ◽  
Nunghathai Sawasdee ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Renal Tubular Acidosis ◽  
Autosomal Recessive ◽  
Distal Renal Tubular Acidosis ◽  
Solute Carrier Family ◽  
Solute Carrier ◽  
Renal Tubular
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