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2 results on '"GNPAT gene"'

1. Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene.

Author

Sayed, Jamal, Gamal, Ahmed, Theyab, Abdulrahman, Algahtani, Mohamed, and Aldaadi, Banan Bakheet

Subjects
*GENETIC variation, *ACHONDROPLASIA, *NEONATAL intensive care, *SKELETAL abnormalities, *GENETIC mutation, *NEONATAL sepsis
Abstract

Key Clinical Message: Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyltransferase (GNPAT) gene mutations and is inherited as an autosomal recessive trait. The disorder is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory distress. The case report describes a newborn baby with a dysmorphic facial appearance and skeletal abnormalities who was admitted to neonatal intensive care with respiratory distress. His parents were first cousins. The whole exome sequencing for this patient identified an interesting homozygous variant in the GNPAT gene [GNPAT (NM_014236.4):c.1602+1G>A (p.?), Chr1 (GRCh37):g.231408138G>A]. This case report aims to highlight the patient's clinical presentation with the variant and the whole exome sequencing, indicating the identification of a novel mutation in the GNPAT gene causing RCDP type 2. [ABSTRACT FROM AUTHOR]

Published
2023
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2. GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors

Author

GRENI, FEDERICO, MARIANI, RAFFAELLA, RAVASI, GIULIA, GALIMBERTI, STEFANIA, PIPERNO, ALBERTO, PELUCCHI, SARA, Valenti, L, Pelloni, I, Rametta, R, Busti, F, Girelli, D, Fargion, S, Greni, F, Valenti, L, Mariani, R, Pelloni, I, Rametta, R, Busti, F, Ravasi, G, Girelli, D, Fargion, S, Galimberti, S, Piperno, A, and Pelucchi, S

Subjects
0301 basic medicine, Adult, Liver Cirrhosis, Male, Heterozygote, Iron, Glycoceronephosphate-O-acyltrasnferase, Hereditary Hemochromatosis, Iron Overload, polymorphism, serum ferritin, Specialties of internal medicine, Blood Donors, Glyceronephosphate O-acyltransferase, Polymorphism, Single Nucleotide, Serum ferritin, 03 medical and health sciences, 0302 clinical medicine, GNPAT gene, Gene Frequency, Risk Factors, Humans, Iron overload, Genetic Predisposition to Disease, Polymorphism, Hemochromatosis Protein, Genetic Association Studies, Hepatology, Homozygote, General Medicine, Middle Aged, 030104 developmental biology, Phenotype, Italy, Liver, RC581-951, Case-Control Studies, Ferritins, Hereditary hemochromatosis, 030211 gastroenterology & hepatology, Female, Hemochromatosis, Acyltransferases, Biomarkers
Abstract

Background and Aim: HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p.C282Y homozygotes and 169 healthy controls. Material and Methods: Allele and genotype frequencies were analysed and compared with those reported in Exome Variant Server (EVS). To explore the role of rs11558492 as a potential modifier of iron status, serum ferritin (SF), liver iron concentration (LIC) and iron removed (IR) were studied according to allele and genotype frequencies. In addition, the effect of the SNP on liver fibrosis was examined comparing patients with absent/mild-moderate fibrosis to those with severe fibrosis-cirrho-sis. Results: GNPAT rs11558492 minor allele (G) frequency (MAF) was 20.3% in HFE-HH, 17.2% in controls and 20.6% in EVS database. Genotype frequencies were 64% and 69.2% (AA), 31.2% and 27.2% (AG), 4.8% and 3.6% (GG) in HFE-HH and controls, respectively. No significant differences were found comparing genotype and allele frequencies even selecting subgroups of only-males with extreme phenotypes and low alcohol intake. SF, IR and LIC levels did not significantly differ according to rs11558492 genotypes. Also, MAF did not differ between patients with absent/mild fibrosis and severe fibrosis/cirrhosis. Conclusions: Our findings indicate that GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-HH patients.

Published
2017

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