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Page 1
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spectrum disorder (ASD), macrocephaly, tall stature, and motor delay. RAPAS [MIM #6201551] is a recently reported multisystemic disord …
LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spec …
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.
Gambadauro A, Mangano GD, Galletta K, Granata F, Riva A, Massella L, Guzzo I, Farello G, Scorrano G, Di Francesco L, Di Donato G, Ianni C, Di Ludovico A, La Bella S, Striano P, Efthymiou S, Houlden H, Nardello R, Chimenz R. Gambadauro A, et al. Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143. Genes (Basel). 2023. PMID: 38136965 Free PMC article. Review.
We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microcephaly, axial hypotonia, lack of achievement of motor milestones, and refractory seizures with an associated hypsarrhythmic p …
We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by microceph …
MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M, De Dominicis A, Micalizzi A, Ferretti A, Dentici ML, Terracciano A, Calabrese C, Vigevano F, Novelli G, Novelli A, Specchio N. Trivisano M, et al. Seizure. 2022 Oct;101:211-217. doi: 10.1016/j.seizure.2022.09.002. Epub 2022 Sep 3. Seizure. 2022. PMID: 36087421 Free article. Review.
PURPOSE: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental disorders, which are characterized by mild-to-severe intellectual disability, autism spectrum disorder, attention deficit/hyperacti …
PURPOSE: Mutations in the MED13 gene are reported in the literature in association with clinically variable, neurodevelopmental di …
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E. Shah R, et al. Mol Genet Metab. 2024 Jun;142(2):108472. doi: 10.1016/j.ymgme.2024.108472. Epub 2024 Apr 23. Mol Genet Metab. 2024. PMID: 38703411 Review.
ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. ...Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include …
ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that af …
Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature.
Okur V, Ganapathi M, Wilson A, Chung WK. Okur V, et al. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003301. doi: 10.1101/mcs.a003301. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30275004 Free PMC article. Review.
Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, microcephaly, prematurity, and transient elevation of liver enzymes in infancy. ...Biallelic variants in VARS have previously been associ …
Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, m …
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). ...Besides dysmorphic featur …
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently as …
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A, Zhou R, Gu Q, Liu M, Zhang B, Huang J, Yang B, Yao R, Wang J, Lv H, Wang J, Shen Y, Wang H, Chen X. Zhao A, et al. Clin Chim Acta. 2021 Dec;523:10-18. doi: 10.1016/j.cca.2021.08.030. Epub 2021 Aug 31. Clin Chim Acta. 2021. PMID: 34478686 Review.
BACKGROUND: Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, OMIM # 618707) is a newly described autosomal dominant condition caused by heterozygous de novo mutation in WASF1 gene. ...This hotspot missense variant and the trunc …
BACKGROUND: Neurodevelopmental disorder with absent language and variable seizures (NEDALVS, OMIM # 618707) is a newly …
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.
Zhang Y, Zhang L, Zhou S. Zhang Y, et al. Neuropediatrics. 2020 Feb;51(1):68-71. doi: 10.1055/s-0039-1698423. Epub 2019 Sep 30. Neuropediatrics. 2020. PMID: 31569255 Review.
Variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of alpha/beta-tubulin heterodimers, may lead to neurodevelopmental disorders. We aimed to study the clinical, electroencephalographic, a …
Variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of alpha/b …
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Aoki S, Watanabe K, Kato M, Konishi Y, Kubota K, Kobayashi E, Nakashima M, Saitsu H. Aoki S, et al. Neurogenetics. 2024 Jan;25(1):3-11. doi: 10.1007/s10048-023-00737-5. Epub 2023 Oct 26. Neurogenetics. 2024. PMID: 37882972 Review.
Recent studies have revealed that biallelic loss-of-function variants of SMPD4 cause syndromic neurodevelopmental disorders characterized by microcephaly, congenital arthrogryposis, and structural brain anomalies. ...He exhibited diverse manifestations, inclu …
Recent studies have revealed that biallelic loss-of-function variants of SMPD4 cause syndromic neurodevelopmental disorders ch …
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. Magyar CL, et al. Am J Med Genet A. 2022 Jun;188(6):1868-1874. doi: 10.1002/ajmg.a.62704. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35194938 Review.
In 2015, biallelic PRUNE1 loss-of-function variants were identified to cause the neurodevelopmental disorder with microcephaly, hypotonia, and variable brain abnormalities (NMIHBA, OMIM#617481). ...Here, we report a novel homozygous PRUNE1 NM_021222.2: …
In 2015, biallelic PRUNE1 loss-of-function variants were identified to cause the neurodevelopmental disorder with microceph …
19 results