Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Andermann F, Ohtahara S, Andermann E, Camfield P, Kobayashi K (1994) Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? Mov Disord 9:227–229. https://doi.org/10.1002/mds.870090219

Article  CAS  PubMed  Google Scholar 

Ayala R, Shu T, Tsai LH (2007) Trekking across the brain: the journey of neuronal migration. Cell 128:29–43. https://doi.org/10.1016/j.cell.2006.12.021

Article  CAS  PubMed  Google Scholar 

Beinvogl BC, Rosman NP, Baumer FM, Rodan LH, Forster CS, Kwon AH, Berry GT (2016) A 10-month-old with intermittent hypotonia and paralysis. Pediatrics 138:e20151896. https://doi.org/10.1542/peds.2015-1896

Article  PubMed  Google Scholar 

Bajaj S, Bagley JA, Sommer C, Vertesy A, Wong SN, Krenn V, Lévi-Strauss J, Knoblich JA (2021) Neurotransmitter signaling regulates distinct phases of multimodal human interneuron migration. EMBO J 40:e108714. https://doi.org/10.15252/embj.2021108714

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bernhermer H (1964) Distribution of homovanillic acid in the human brain. Nature 204:587–588. https://doi.org/10.1038/204587b0

Article  Google Scholar 

Bizarro J, Meier UT (2017) Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Mol Genet Genomic Med 5:805–808. https://doi.org/10.1002/mgg3.314

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brignani S, Pasterkamp RJ (2017) Neuronal subset-specific migration and axonal wiring mechanisms in the developing midbrain dopamine system. Front Neuroanat 11:55. https://doi.org/10.3389/fnana.2017.00055

Article  CAS  PubMed  PubMed Central  Google Scholar 

Charlesworth G, Bhatia KP, Wood NW (2013) The genetics of dystonia: new twists in an old tale. Brain 136:2017–2037. https://doi.org/10.1093/brain/awt138

Article  PubMed  PubMed Central  Google Scholar 

Chi CS, Lee HF, Tsai CR (2012) Tyrosine hydroxylase deficiency in Taiwanese infants. Pediatr Neurol 46:77–82. https://doi.org/10.1016/j.pediatrneurol.2011.11.012

Article  PubMed  Google Scholar 

Furukawa Y, Kish S (2017) Tyrosine hydroxylase deficiency. 2008 Feb 8 [Updated 2017 May 11]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (eds) GeneReviews ® [Internet]. University of Washington, Seattle, Seattle (WA), 1993–2022

Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA (2015) Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Brit J Haematol 170:457–471. https://doi.org/10.1111/bjh.13442

Article  Google Scholar 

Gorodetsky C, Fasano A (2022) Approach of the treatment of pediatric dystonia. Dyst 1:10287. https://doi.org/10.3389/dyst.2022.10287

Article  Google Scholar 

Gressens P (2000) Mechanisms and disturbances of neuronal migration. Pediatr Res 48:725–729. https://doi.org/10.1203/00006450-200012000-00004

Article  CAS  PubMed  Google Scholar 

Grozdanov PN, Roy S, Kittur N, Meier UT (2009a) SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. RNA 15:1188–1197. https://doi.org/10.1261/rna.1532109

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grozdanov PN, Fernandez-Fuentes N, Fiser A, Meier UT (2009b) Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. Hum Mol Genet 18:4546–4551. https://doi.org/10.1093/hmg/ddp416

Article  CAS  PubMed  PubMed Central  Google Scholar 

Indelicato E, Boesch S, Baumgartner M, Plecko B, Winkelmann J, Zech M (2022) Confirmation of a causal role for SHQ1 variants in early infantile-onset recessive dystonia. Mov Disord. https://doi.org/10.1002/mds.29281

Article  PubMed  Google Scholar 

Jernigan TL, Baaré WFC, Stiles J, Madsen KS (2011) Postnatal brain development: structural imaging of dynamic neurodevelopmental processes. Prog Brain Res 189:77–92. https://doi.org/10.1016/B978-0-444-53884-0.00019-1

Article  PubMed  PubMed Central  Google Scholar 

Kim MK, Lee SJ, Won CK (2020) Dopaminergic neuronal development in the embryonic mesencephalon of mouse. Korean J Vet Res 60:203–207. https://doi.org/10.14405/kjvr.2020.60.4.203

Article  Google Scholar 

Kiss T, Fayet-Lebaron E, Jády BE (2010) Box H/ACA small ribonucleoproteins. Mol Cell 37:597–606. https://doi.org/10.1016/j.molcel.2010.01.032

Article  PubMed  Google Scholar 

Kong CK, Ko CH, Tong SF, Lam CW (2001) Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology 57:1121–1124. https://doi.org/10.1212/WNL.57.6.1121

Article  CAS  PubMed  Google Scholar 

Kung MP, Stevenson DA, Plössl K, Meegalla SK, Beckwith A, Essman WD, Mu M, Lucki I, Kung HK (1997) [99mTc] TRODAT-1: a novel technetium-99m complex as a dopamine transporter imaging agent. Eur J Nucl Med 24:372–380. https://doi.org/10.1007/BF00881808

Article  CAS  PubMed  Google Scholar 

Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ (2009) Aromatic l-amino acid decarboxylase deficiency in Taiwan. Eur J Pediatr Neurol 13:135–140. https://doi.org/10.1016/j.ejpn.2008.03.008

Article  Google Scholar 

Lee HF, Chi CS, Tsai CR (2021) Diagnostic yield and treatment impact of whole-genome sequencing in pediatric neurological disorders. Dev Med Child Neurol 63:934–938. https://doi.org/10.1111/dmcn.14722

Article  PubMed  Google Scholar 

Lisi EC, Cohn RD (2011) Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review the literature. Dev Med Child Neurol 53:586–599. https://doi.org/10.1111/j.1469-8749.2011.03918.x

Article  PubMed  Google Scholar 

Luhmann HJ, Fukuda A, Kilb W (2015) Control of cortical neuronal migration by glutamate and GABA. Front Cell Neurosci 9:4. https://doi.org/10.3389/fncel.2015.00004

Article  CAS  PubMed  PubMed Central  Google Scholar 

Machado-Pinilla R, Liger D, Leulliot N, Meier UT (2012) Mechanism of the AAA+ ATPases pontin and reptin in the biogenesis of H/ACA RNPs. RNA 18:1833–1845. https://doi.org/10.1261/rna.034942.112

Article  CAS  PubMed  PubMed Central  Google Scholar 

Okumura A, Maruyama K, Shibata M, Kurahashi H, Ishii A, Numoto S, Hirose S, Kawai T, Iso M, Kataoka S, Okuno Y, Muramatsu H, Kojima S (2018) A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. Brain Dev 40:926–930. https://doi.org/10.1016/j.braindev.2018.06.005

Article  PubMed  Google Scholar 

Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SKH, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian MA, Steel D, Manti F, Meeks KD, Jeltsch K, Flint L (2020) AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients. J Inherit Metab Dis 43:1121–1130. https://doi.org/10.1002/jimd.12247

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rahimi-Balaei M, Bergen H, Kong J, Marzban H (2018) Neuronal migration during development of the cerebellum. Front Cell Neurosci 12:484. https://doi.org/10.3389/fncel.2018.00484

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47(D1):D886-894. https://doi.org/10.1093/nar/gky1016

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Singh M, Gonzales FA, Cascio D, Heckmann N, Chanfreau G, Feigon J (2009) Structure and functional studies of the CS domain of the essential H/ACA ribonucleoparticle assembly protein SHQ1. J Biol Chem 284:1906–1916. https://doi.org/10.1074/jbc.M807337200

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sleiman S, Marshall AE, Dong X, Mhanni A, Alidou-D’Anjou I, Frosk P, Marin SE, Stark Z, Del Bigio MR, McBride A, Sadedin S, Gallacher L, Care4Rare Canada Consortium, Christodoulou J, Boycott KM, Dragon F, Kernohan KD (2022) Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Hum Mol 31:614–624. https://doi.org/10.1093/hmg/ddab247

Article  CAS  Google Scholar 

Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A (2016) Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. Neurol Genet 2:e106. https://doi.org/10.1212/NXG.0000000000000106

Article  PubMed  PubMed Central  Google Scholar 

Theisen U, Hennig C, Ring T, Schnabel R, Köster RW (2018) Neurotransmitter-medicated activity spatially controls neuronal migration in the zebrafish cerebellum. PLoS Biol 16:e2002226. https://doi.org/10.1371/journal.pbio.2002226

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vaswani AR, Weykopf B, Hagemann C, Fried HU, Brüstle O, Blaess S (2019) Correct setup of the substantia nigra requires Reelin-mediated fast, laterally-directed migration of dopaminergic neurons. Elife 8:e41623. https://doi.org/10.7554/eLife.41623

Article  PubMed  PubMed Central  Google Scholar 

Walbott H, Machado-Pinilla R, Liger D, Blaud M, Réty S, Grozdanov PN, Godin K, van Tilbeurgh H, Varani G, Meier UT, Leulliot N (2011) The H/ACA RNP assembly factor SHQ1 functions as an RNA mimic. Gene Dev

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