LAUSR

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

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0 Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.768

Abstract: Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of… read more here.

Keywords: epileptic encephalopathy; mutations pigp; biallelic mutations; pigp cause ... See more keywords

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility

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0 Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2078

Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and/or irregular‐caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes… read more here.

Keywords: novel biallelic; mutations ttc29; biallelic mutations; asthenoteratospermia ... See more keywords

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

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1 Published in 2017 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2017.07.005

Abstract: The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair… read more here.

Keywords: leigh syndrome; small mitoribosomal; biallelic mutations; mitoribosomal subunit ... See more keywords

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

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0 Published in 2020 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2020.10.005

Abstract: Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic mutations in NDUFA8 (c.[293G > T]; [293G > T], encoding for an accessory subunit of CI, in two siblings with… read more here.

Keywords: siblings favorable; mutations ndufa8; two siblings; complex deficiency ... See more keywords

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

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0 Published in 2018 at "Journal of Human Genetics"

DOI: 10.1038/s10038-018-0515-y

Abstract: Mitochondrial dysfunction lies behind many neurodegenerative disorders, owing largely to the intense energy requirements of most neurons. Such mitochondrial dysfunction may work through a variety of mechanisms, from direct disruption of the electron transport chain… read more here.

Keywords: fdxr cause; cause; mutations fdxr; inflammation ... See more keywords

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2‐Related Epilepsy

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1 Published in 2018 at "Neuropediatrics"

DOI: 10.1055/s-0037-1606370

Abstract: Abstract Recently, heterozygous de novo mutations in SCL1A2 have been reported to underlie severe early‐onset epileptic encephalopathy. In one male presenting with epileptic seizures and visual impairment, we identified a novel homozygous splicing variant in… read more here.

Keywords: biallelic mutations; mode inheritance; slc1a2 related;

Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin

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1 Published in 2018 at "Clinical Genetics"

DOI: 10.1111/cge.13165

Abstract: Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a… read more here.

Keywords: flnb; mutations flnb; gonadal dysgenesis; biallelic mutations ... See more keywords

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella

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0 Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13898

Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole‐exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two… read more here.

Keywords: morphological abnormalities; abnormalities sperm; sperm flagella; multiple morphological ... See more keywords

Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings

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2 Published in 2023 at "Clinical Genetics"

DOI: 10.1111/cge.14300

Abstract: POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA polymerase III enzymes in transcription. Bi‐allelic variants in POLR3B pathogenically cause hypomyelinating leukodystrophy‐8 (HLD8). Herein, we recruited a family with two… read more here.

Keywords: mutations associated; polr3b biallelic; identification polr3b; biallelic mutations ... See more keywords

Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma

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1 Published in 2023 at "Experimental Dermatology"

DOI: 10.1111/exd.14774

Abstract: Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in… read more here.

Keywords: mutilating palmoplantar; biallelic mutations; palmoplantar; mutations lss ... See more keywords

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

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0 Published in 2019 at "Journal of Medical Genetics"

DOI: 10.1136/jmedgenet-2019-106031

Abstract: Background The genetic causes for most male infertility due to severe asthenozoospermia remain unclear. Objective Our objective was to identify unknown genetic factors in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. Methods… read more here.

Keywords: acrosome hypoplasia; mutations cfap65; cfap65 lead; biallelic mutations ... See more keywords