scholarly journals A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia

2016 ◽  
Vol 91 (3) ◽  
pp. 441-447 ◽  
Author(s):  
A. Torraco ◽  
M. Bianchi ◽  
D. Verrigni ◽  
V. Gelmetti ◽  
L. Riley ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Sideroblastic Anemia

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

2012 ◽  
Vol 33 (8) ◽  
pp. 1201-1206 ◽  
Author(s):  
Florin Sasarman ◽  
Tamiko Nishimura ◽  
Isabelle Thiffault ◽  
Eric A. Shoubridge
Keyword(s):  
Lactic Acidosis ◽  
Novel Mutation ◽  
Sideroblastic Anemia

scholarly journals A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation

2017 ◽  
Author(s):  
Çiğdem Seher Kasapkara ◽  
Leyla Tümer ◽  
Nadia Zanetti ◽  
Fatih Ezgü ◽  
Eleonora Lamantea ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

2014 ◽  
Vol 59 (4) ◽  
pp. 229-232 ◽  
Author(s):  
Junya Nakajima ◽  
Tuba F Eminoglu ◽  
Goksel Vatansever ◽  
Mitsuko Nakashima ◽  
Yoshinori Tsurusaki ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Sideroblastic Anemia

scholarly journals Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

2010 ◽  
Vol 87 (1) ◽  
pp. 52-59 ◽  
Author(s):  
Lisa G. Riley ◽  
Sandra Cooper ◽  
Peter Hickey ◽  
Joëlle Rudinger-Thirion ◽  
Matthew McKenzie ◽  
...  
Keyword(s):  
Lactic Acidosis ◽  
Trna Synthetase ◽  
Sideroblastic Anemia

scholarly journals A Novel Mutation in the Mitochondrial DNA CytochromebGene (MTCYB)in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome

2012 ◽  
Vol 28 (2) ◽  
pp. 236-242 ◽  
Author(s):  
Valentina Emmanuele ◽  
Evangelia Sotiriou ◽  
Purificación Gutierrez Rios ◽  
Jaya Ganesh ◽  
Rebecca Ichord ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Novel Mutation ◽  
Mitochondrial Encephalomyopathy

Atypical haematological presentation in a case of polycythaemia vera with a new variant mutation detected in exon 12: c.1605G>T (p.Met535Ile)

2017 ◽  
Vol 71 (2) ◽  
pp. 180-184 ◽  
Author(s):  
Amélia Soraia Andrade Pita ◽  
Ana Paula da Silva Azevedo ◽  
Alice Reichert ◽  
Cândido José Pimenta da Silva ◽  
Vanessa Henriques ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Novel Mutation ◽  
Janus Kinase ◽  
Polycythaemia Vera ◽  
Janus Kinase 2 ◽  
Gain Of Function ◽  
New Variant

One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene—first JAK2V617F on exon 14, present in 95%–97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis). It appears to be associated with a distinct syndrome, mostly characterised by isolated and more marked erythrocytosis, independently of the mutational variant. We report here the case of a patient who is JAK2exon 12 positive, presenting a novel mutation—c.1605G>T (p.Met535Ile)—associated with c.1612C>T (p.His538Tyr) mutation previously described, evidencing an atypical clinical phenotype.

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

2020 ◽  
Author(s):  
Motahareh Sheikh-Hosseini ◽  
Mohammad Moarefzadeh ◽  
Hamideh Alavi-Moghaddam ◽  
Saeid Morovvati
Keyword(s):  
Neonatal Jaundice ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Cerebral Atrophy ◽  
Pathogenic Mutation ◽  
Consanguineous Marriage ◽  
The Other ◽  
Congenital Infections ◽  
History Of

AbstractAicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.

Three Kinships with ALAS2 P520L Mutations, Two in Association with Severe Iron Overload, and One with Sideroblastic Anemia and Severe Iron Overload.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3723-3723
Author(s):  
Pauline L. Lee ◽  
James C. Barton ◽  
Sreenivas V. Rao ◽  
Ronald T. Acton ◽  
Brian K. Adler ◽  
...  
Keyword(s):  
Iron Overload ◽  
Novel Mutation ◽  
White Male ◽  
Missense Mutations ◽  
Sideroblastic Anemia ◽  
Aminolevulinate Synthase ◽  
C282y Homozygote ◽  
Sequencing Studies ◽  
Unknown Gene ◽  
Distinctive Phenotype

Abstract Aminolevulinate synthase 2 (ALAS2) is an erythroid-expressed gene located on chromosome Xp11.21. Mutations in ALAS2 have been shown to be associated with sideroblastic anemia. We have identified a novel mutation in ALAS2, P520L, in three kinships. The P520L mutation was not found in 316 white male control subjects. The proline in this position is highly conserved across species from humans to zebrafish. In the C kinship, the P520L mutation was first identified in a white man who presented with severe iron overload at an early age and was a HFE C282Y homozygote. Genetic analyses of members of the C kinship suggest that the presence of P520L alone in hemizygous males, or simple heterozygosity in females, is not associated with anemia or iron overload. Females heterozygous for both HFE C282Y and ALAS2 P520L also had normal ferritin levels. Only subjects homozygous for HFE C282Y and hemizygous or heterozygous for ALAS2 P520L had severe iron overload. Sequencing studies revealed that the propositus did not have missense mutations in HAMP, HJV, FPN1, ABC7, IL6, or RAG1. In the H kinship, the propositus was a white woman with severe iron overload who was heterozygous for ALAS2 P520L; she had a wildtype HFE genotype. The pedigree of the H kinship identified 5 additional females who were heterozygous for the P520L ALAS2 mutation. Only the propositus had iron overload and none of the subjects with P520L had sideroblastic anemia. The propositus did not have missense mutations in FPN1, HAMP, HJV, TFR2, B2M, IRP2, ABC7, or SFT. We speculate that the propositus in the H kinship has a mutation in a currently unknown gene that contributes to her severe iron overload. In the S kinship, the P520L mutation was identified in a white man with sideroblastic anemia and severe iron overload. The patient had a second mutation in ALAS2, R560H, a mutation previously described in two brothers with sideroblastic anemia of variable penetrance (Blood100:4236–4238, 2002). It is not possible to determine the effect of the P520L mutation on the penetrance of the R560H-associated sideroblastic anemia and iron overload. We conclude that the ALAS2 P520L occurs at a very low allele frequency in the white population. The present observations also suggest that there is no distinctive phenotype associated with the P520L mutation alone, but that P520L may act as a modifier of iron overload in the presence of HFE homozygosity, other missense mutations of ALAS2, or mutations of uncharacterized iron regulatory genes.

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