UDP‐glucose dehydrogenase variants cause dystroglycanopathy
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DOI: 10.1002/acn3.70002
Abstract: UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated… read more here.
Keywords: variants cause; udp glucose; dehydrogenase variants; cause dystroglycanopathy ... See more keywords
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26019
Abstract: The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease‐causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from… read more here.
Keywords: cerebellar hypoplasia; developmental delay; med27 variants; variants cause ... See more keywords
Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25.
Sign Up to like & getrecommendations! Published in 2022 at "Annals of neurology"
DOI: 10.1002/ana.26366
Abstract: OBJECTIVE Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the… read more here.
Keywords: pnpt1 variants; ataxia; variants cause; pnpt1 ... See more keywords
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
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DOI: 10.1002/ana.26477
Abstract: NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams‐Oliver syndrome, and cardiovascular defects. We describe 7 unrelated patients… read more here.
Keywords: variants cause; cns immune; notch1 variants; heterozygous notch1 ... See more keywords
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
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DOI: 10.1007/s00415-019-09640-2
Abstract: Neurometabolic disorders are often inherited and complex disorders that result from abnormalities of enzymes important for development and function of the nervous system. Recently, biallelic mutations in NAXE ( APOA1BP ) were found in patients… read more here.
Keywords: cause neurometabolic; novel naxe; variants cause; treatment ... See more keywords
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.007
Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.
Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.014
Abstract: SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have… read more here.
Keywords: associated mild; sox4 variants; variants cause; sox4 ... See more keywords
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
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DOI: 10.1038/jhg.2017.58
Abstract: A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome read more here.
Keywords: variable clinical; variants cause; ankrd11 variants; commentary ankrd11 ... See more keywords
Novel CLTC variants cause new brain and kidney phenotypes.
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DOI: 10.1038/s10038-021-00957-3
Abstract: Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause neurodevelopmental delay of varying severity, and often accompanied by dysmorphic features, seizures, hypotonia, and ataxia. To date, 28 affected individuals with CLTC variants… read more here.
Keywords: cause new; variants cause; novel cltc; cltc variants ... See more keywords
Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts
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DOI: 10.1038/s41431-025-01918-6
Abstract: Pontocerebellar hypoplasia (PCH) represents a group of disorders characterized by cerebellum and pons hypoplasia, variable cerebral involvement, microcephaly, severe global developmental delay (GDD), and seizures. We sought the genetic cause of PCH in two siblings.… read more here.
Keywords: cause pontocerebellar; med29 variants; pontocerebellar hypoplasia; variants cause ... See more keywords
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
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DOI: 10.1038/s41588-021-00886-z
Abstract: SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe,… read more here.
Keywords: sptbn1 variants; variants cause; pathogenic sptbn1; cause autosomal ... See more keywords