Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24215
Abstract: Mental deficiency, epilepsy, hypogonadism, microcephaly, and obesity syndrome is a severe X‐linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor‐2, eIF2, essential for protein… read more here.
Keywords: related eif2s3; spectrum physiological; insights related; phenotypic spectrum ... See more keywords
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients
Sign Up to like & getrecommendations! Published in 2018 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.08.007
Abstract: Charcot-Marie-Tooth neuropathy (CMT) is a genetically and clinically heterogeneous group of neuromuscular disorders with an overall prevalence of 1 per 2500. Here we report the first comprehensive genetic epidemiology study of Hungarian CMT patients. 409… read more here.
Keywords: genotypic phenotypic; disease; charcot marie; phenotypic spectrum ... See more keywords
Cardiac phenotypic spectrum of KCNT1 mutations
Sign Up to like & getrecommendations! Published in 2020 at "Cardiology in the Young"
DOI: 10.1017/s1047951120002735
Abstract: Abstract We report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys, R474C) mutation-associated epileptic encephalopathy, systemic-to-pulmonary artery “collateralopathy”, and intermittent QTc prolongation. Spontaneous regression of systemic-to-pulmonary artery collateral-mediated left heart dilation was noted… read more here.
Keywords: phenotypic; cardiac phenotypic; kcnt1 mutations; spectrum kcnt1 ... See more keywords
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-00993-y
Abstract: Purpose We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata–Akhtar syndrome). Methods Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained… read more here.
Keywords: linked msl3; genotypic phenotypic; disorder; spectrum ... See more keywords
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0792-7
Abstract: Somatic variants in tumor necrosis factor receptor–associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define… read more here.
Keywords: spectrum transcriptomic; spectrum; phenotypic spectrum; transcriptomic profile ... See more keywords
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-35373-9
Abstract: Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in… read more here.
Keywords: phenotypic spectrum; hydroxylase deficiency; phenylalanine hydroxylase; mutational phenotypic ... See more keywords
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1947-8411
Abstract: Abstract Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features.… read more here.
Keywords: spanish families; two unrelated; phenotypic spectrum; unrelated spanish ... See more keywords
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a003699
Abstract: Variants in the mitochondrial alanyl-tRNA synthetase 2 gene AARS2 (OMIM 612035) are associated with infantile mitochondrial cardiomyopathy or later-onset leukoencephalopathy with premature ovarian insufficiency. Here, we report two newborn siblings who died soon after birth… read more here.
Keywords: pulmonary hypoplasia; primary pulmonary; phenotypic spectrum; gene ... See more keywords
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders
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DOI: 10.1111/cge.13412
Abstract: MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at least three distinct X‐linked intellectual disability syndromes (FG,… read more here.
Keywords: architecture phenotypic; phenotypic; med12; mediator complex ... See more keywords
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13853
Abstract: Ververi‐Brady syndrome (VBS, # 617982) is a rare developmental disorder, and loss‐of‐function variants in QRICH1 were implicated in its etiology. Furthermore, a recognizable phenotype was proposed comprising delayed speech, learning difficulties and dysmorphic signs. Here,… read more here.
Keywords: ververi brady; spectrum; brady syndrome; qrich1 variants ... See more keywords
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical genetics"
DOI: 10.1111/cge.14125
Abstract: Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families… read more here.
Keywords: phenotypic spectrum; rmi1; bloom syndrome; bloom ... See more keywords