Identification of a novel missense mutation in Friedreich's ataxia –FXNW 168R
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.728
Abstract: Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation.… read more here.
Keywords: novel missense; friedreich ataxia; missense mutation; identification novel ... See more keywords
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2169
Abstract: BACKGROUND Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have been identified across 15… read more here.
Keywords: nodular heterotopia; missense mutation; mutant protein; mutation ... See more keywords
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00700-w
Abstract: To the Editor, ADA2 (previously known as CECR1, cat eye syndrome chromosome region, candidate 1) mutations encoding adenosine deaminase 2 (ADA2) were found to cause the first molecularly defined monogenic vasculitis syndrome [1, 2]. Initial… read more here.
Keywords: dimerization domain; domain ada2; unreported missense; missense mutation ... See more keywords
Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00715-3
Abstract: To the Editor: Familial veno-occlusive disease with Immunodeficiency (VODI, IUIS, Online Mendelian Inheritance in Man (OMIM) 604457) is an autosomal recessive primary immunodeficiency syndrome due to loss-of-function mutations in the SP110 gene [1]. Typically, patients… read more here.
Keywords: immunodeficiency; disease; missense mutation; cell ... See more keywords
A novel finding of an IDH2 mutation in an interesting adult Sonic Hedgehog mutated medulloblastoma
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neuro-Oncology"
DOI: 10.1007/s11060-019-03207-x
Abstract: We report the case of a 29-year-old female who presented with headaches and papilledema and found to have a right cerebellar T2/FLAIR hyperintense mass with restricted diffusion and minimal patchy enhancement resulting in fourth ventricular… read more here.
Keywords: adult; medulloblastoma; missense mutation; sonic hedgehog ... See more keywords
A novel K224T missense mutation in a patient with MEN1 syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Hormones"
DOI: 10.1007/s42000-019-00138-0
Abstract: A 38-year-old man with a history of tobacco abuse presented with recurrent symptomatic nephrolithiasis. Evaluation revealed elevated calcium of 11.8 mg/dl and elevated parathyroid hormone. He was diagnosed with primary hyperparathyroidism and was referred for… read more here.
Keywords: k224t missense; pathology; missense mutation; novel k224t ... See more keywords
A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family.
Sign Up to like & getrecommendations! Published in 2019 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2019.104507
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) can be characterized by hypohidrosis, sparse hair, hypodontia, and characteristic facial features and is usually caused by mutations of ectodysplasin A (EDA) gene located on the X chromosome. In this… read more here.
Keywords: missense mutation; novel missense; eda gene; mutation ... See more keywords
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.07.009
Abstract: PURPOSE To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. METHODS Clinical examinations and cranial imaging studies were performed for all members of the family… read more here.
Keywords: ganglia calcification; missense mutation; pafah1b1; basal ganglia ... See more keywords
A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME
Sign Up to like & getrecommendations! Published in 2021 at "Hematology, Transfusion and Cell Therapy"
DOI: 10.1016/j.htct.2021.10.1086
Abstract: Shwachman-Diamond Syndrome (SDS) and related bone marrow failure disorders are characterized by early onset pancytopenia with a hypocellular bone marrow, short stature, and pancreatic insufficiency, along with an increased risk for myeloid malignancies. Recently, several… read more here.
Keywords: syndrome; dnaj domain; domain dnajc21; mutation ... See more keywords
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
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DOI: 10.1016/j.mcp.2016.11.002
Abstract: Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step… read more here.
Keywords: epilepsy; aldh7a1; dependent epilepsy; missense mutation ... See more keywords
Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T).
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102349
Abstract: Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system. A missense mutation in… read more here.
Keywords: atrial fibrillation; familial dilated; missense mutation; cardiomyopathy atrial ... See more keywords