Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
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DOI: 10.1002/acn3.51272
Abstract: We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in… read more here.
Keywords: epileptic encephalopathy; encephalopathy due; responsive epileptic; two siblings ... See more keywords
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
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DOI: 10.1007/s10875-019-00615-6
Abstract: To the Editor, Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects… read more here.
Keywords: immunodeficiency; scid; two siblings; combined immunodeficiency ... See more keywords
Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant
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DOI: 10.1016/j.ajoc.2020.100914
Abstract: Purpose To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. Observations Sequencing analysis revealed a p.Met390Arg pathogenic variant in… read more here.
Keywords: bbs; bardet biedl; analysis; biedl syndrome ... See more keywords
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency
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DOI: 10.1016/j.braindev.2020.10.011
Abstract: Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two… read more here.
Keywords: peroxisomal acyl; acyl coa; acox1 deficiency; two siblings ... See more keywords
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.018
Abstract: Jacobsen syndrome refers to a congenital anomaly caused by deletion at 11q23.3-qter. We here describe two siblings with the same 11q23.3-qter deletion. Both parents were healthy with a normal karyotype. Cytogenetic microarray analysis revealed no… read more here.
Keywords: uniparental disomy; deletion; 11q23 qter; two siblings ... See more keywords
Early-onset stroke in two siblings with Neurofibromatosis type 1.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103710
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by cafe-au-lait macules, benign neurofibromas as well as malignant peripheral nerve sheath tumours, freckling in the axillary or inguinal regions, optic glioma and Lisch… read more here.
Keywords: early onset; neurofibromatosis type; two siblings; stroke two ... See more keywords
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104060
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a… read more here.
Keywords: two aberrant; aberrant transcripts; deletion; cardiac rhabdomyomas ... See more keywords
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
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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
A CASE REPORT OF TWO SIBLINGS WITH CONGENITAL RIGHT ATRIAL ANEURYSMS
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DOI: 10.1016/s0735-1097(20)33635-4
Abstract: Congenital aneurysm arising from the right atrium is a very rare anomaly in pediatric patients. Given the disease rarity, two siblings of same parents with right atrial aneurysm is not currently reported in the literature.… read more here.
Keywords: siblings congenital; congenital right; report two; right atrial ... See more keywords
Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings
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DOI: 10.1055/s-0040-1713853
Abstract: Hypermanganesemia with dystonia and polycythemia along with liver cirrhosis is a rare syndromic complex that is associated with a characteristic genetic mutation and a typical appearance in the T1-weighted noncontrast image. We report the neuroimaging… read more here.
Keywords: hereditary manganese; appearance; treatable hereditary; two siblings ... See more keywords
Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings
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DOI: 10.1080/13816810.2021.1923033
Abstract: ABSTRACT Background Heimler syndrome (OMIM number #234580 and #616617) is a rare condition comprising sensorineural hearing loss (SNHL), nail abnormalities and amelogenesis imperfecta. In addition, patients with this syndrome can have retinal dystrophies. Heimler syndrome… read more here.
Keywords: syndrome caused; heimler syndrome; caused pex1; two siblings ... See more keywords