Literature DB >> 33958741

Evidence of mosaicism in SPAST variant carriers in four French families.

Chloé Angelini1,2, Cyril Goizet1,2,3, Samia Ait Said4, William Camu5, Christel Depienne4,6,7, Bénédicte Heron8, Bophara Kol4, Marine Guillaud-Bataille4, Perrine Pennamen1,3, Caroline Rooryck1,3, Clarisse Scherer-Gagou9, Laurène Tissier4, Giovanni Stevanin4,6,10, Eric Leguern11,12, Guillaume Banneau4,13.   

Abstract

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.

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Year:  2021        PMID： 33958741      PMCID： PMC8298572          DOI： 10.1038/s41431-021-00847-4

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   5.351


  17 in total

1.  A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

Authors:  A M Matthews; M Tarailo-Graovac; E M Price; I Blydt-Hansen; A Ghani; B I Drögemöller; W P Robinson; C J Ross; W W Wasserman; H Siden; C D van Karnebeek
Journal:  Eur J Med Genet       Date:  2017-08-01       Impact factor: 2.708

2.  De novo SPAST mutations may cause a complex SPG4 phenotype.

Authors:  Jolanda H Schieving; Susanne T de Bot; Laura A van de Pol; Nicole I Wolf; Eva H Brilstra; Suzanna G Frints; Judith van Gaalen; Mala Misra-Isrie; Maartje Pennings; Corien C Verschuuren-Bemelmans; Erik-Jan Kamsteeg; Bart P van de Warrenburg; Michèl A Willemsen
Journal:  Brain       Date:  2019-07-01       Impact factor: 13.501

3.  A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

Authors:  Anna Aulitzky; Katrin Friedrich; Dieter Gläser; Regina Gastl; Christian Kubisch; Albert C Ludolph; Alexander E Volk
Journal:  J Neurol Sci       Date:  2014-10-02       Impact factor: 3.181

4.  Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Authors:  Livia Parodi; Silvia Fenu; Mathieu Barbier; Guillaume Banneau; Charles Duyckaerts; Sophie Tezenas du Montcel; Marie-Lorraine Monin; Samia Ait Said; Justine Guegan; Chantal M E Tallaksen; Bertrand Sablonniere; Alexis Brice; Giovanni Stevanin; Christel Depienne; Alexandra Durr
Journal:  Brain       Date:  2018-12-01       Impact factor: 13.501

5.  Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Authors:  C Depienne; C Tallaksen; J Y Lephay; B Bricka; S Poea-Guyon; B Fontaine; P Labauge; A Brice; A Durr
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

Review 6.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Authors:  Joanna M Solowska; Peter W Baas
Journal:  Brain       Date:  2015-06-20       Impact factor: 13.501

7.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors:  N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

8.  A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

Authors:  Christel Depienne; Estelle Fedirko; Jean-Marc Faucheux; Sylvie Forlani; Bernard Bricka; Cyril Goizet; Sylvie Lesourd; Giovanni Stevanin; Merle Ruberg; Alexandra Durr; Alexis Brice
Journal:  Neurogenetics       Date:  2007-06-28       Impact factor: 2.660

9.  A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Authors:  Alexandros A Polymeris; Alessandra Tessa; Katherine Anagnostopoulou; Anna Rubegni; Daniele Galatolo; Argirios Dinopoulos; Artemis D Gika; Sotiris Youroukos; Eleni Skouteli; Filippo M Santorelli; Roser Pons
Journal:  J Neurol       Date:  2016-06-03       Impact factor: 4.849

10.  MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).

Authors:  Chantal Depondt; Simona Donatello; Myriam Rai; François Charles Wang; Mario Manto; Nicolas Simonis; Massimo Pandolfo
Journal:  Neurol Genet       Date:  2016-08-18
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  3 in total

1.  Clinical genetics-it's polygenic.

Authors:  Alisdair McNeill
Journal:  Eur J Hum Genet       Date:  2021-07       Impact factor: 5.351

Review 2.  Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.

Authors:  Liena E O Elsayed; Isra Zuhair Eltazi; Ammar E Ahmed; Giovanni Stevanin
Journal:  Front Mol Biosci       Date:  2021-11-26

3.  A novel variant of SPAST in a pedigree with pure hereditary spastic paraplegia in Yunnan Province.

Authors:  Tao Shen; Wen Zhang; Li Li; Rong-Xia Zuo; Zi-Jun Wang; Tai Xiao; Kun-Wen Zheng
Journal:  Ann Transl Med       Date:  2022-01
  3 in total

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