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Sökning: id:"swepub:oai:DiVA.org:uu-507639" > Extending the pheno...

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

Gazdagh, Gabriella (författare)
Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.;Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
Hunt, David (författare)
Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.
Gonzalez, Anna Maria Cueto (författare)
Vall dHebron Barcelona Hosp Campus, Dept Clin & Mol Genet, Barcelona, Spain.
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Rodriguez, Monserrat Pons (författare)
Hosp Univ Son Espases, Palma De Mallorca 07120, Illes Balears, Spain.
Chaudhry, Ayeshah (författare)
Trillium Hlth Partners, Dept Lab Med & Genet, Mississauga, ON, Canada.;Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.
Madruga, Marcos (författare)
Karolinska Institutet
Vansenne, Fleur (författare)
Univ Med Ctr Groningen, Dept Clin Genet, NL-9713 GZ Groningen, Netherlands.
Shears, Deborah (författare)
Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England.
Curie, Aurore (författare)
Univ Lyon, Reference Ctr Intellectual Disabil Rrare Causes, Dept Child Neurol,CNRS UMR5292,INSERM U1028, Woman Mother & Child Hosp,Hosp Civils Lyon,Lyon N, Bron, France.
Stattin, Evalena (författare)
Uppsala universitet,Institutionen för immunologi, genetik och patologi
Anderlid, Britt-Marie (författare)
Karolinska Univ Hosp, Karolinska Inst & Clin Genet, Dept Mol Med & Surg, Stockholm, Sweden.
Trajkova, Slavica (författare)
Univ Turin, Dept Med Sci Med Genet & Rare Dis, Turin, Italy.
Angelovska, Elena Sukarova (författare)
Univ Sv Kiril & Metodij, Dept Endocronol & Genet, Fac Med, Univ Clin Childrens Dis, Skopje, North Macedonia.
McWilliam, Catherine (författare)
Ninewells Hosp, NHS Tayside, Dundee, Scotland.
Wyatt, Philip R. (författare)
York Cent Hosp, Dept Obstet & Gynecol, Toronto, ON, Canada.
O'Driscoll, Mary (författare)
West Midlands Reg Genet Serv, Birmingham, W Midlands, England.
Atton, Giles (författare)
Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.
Bergman, Anke K. (författare)
Inst Human Genet, Hannover Med Sch, Hannover, Germany.
Zacher, Pia (författare)
Epilepsy Ctr Kleinwachau, Radeberg, Germany.;Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany.
Mewasingh, Leena D. (författare)
Imperial Coll Healthcare NHS Trust, Dept Paediat Neurol, London, England.
Lopez, Antonio Gonzalez-Meneses (författare)
Univ Seville, Unidad Dismorfol, Unidad Gest Clin Pediat, Hosp Univ Virgen Rocio,Pediat Dept, Seville, Spain.
Alonso-Luengo, Olga (författare)
Univ Seville, Secc Neurol Pediat, Unidad Gest Clin Pediat, Hosp Univ Virgen Rocio,Pediat Dept, Seville, Spain.
Wai, Htoo A. (författare)
Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
Rohde, Ottilie (författare)
Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
Boiroux, Pauline (författare)
Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.
Debant, Anne (författare)
Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.
Schmidt, Susanne (författare)
Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.
Baralle, Diana (författare)
Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.
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Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England;Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England. Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England. (creator_code:org_t)
2023-03-29
2023
Engelska.
Ingår i: American Journal of Medical Genetics. Part A. - : Wiley-Blackwell. - 1552-4825 .- 1552-4833. ; 191:7, s. 1722-1740
Relaterad länk:
https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
http://kipublication...
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  • Forskningsöversikt (refereegranskat)
Abstract Ämnesord
Stäng  
  • The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on RAC1 activity. Currently, 32 cases with a TRIO gene alteration have been published in the medical literature. Here, we report an additional 25, previously unreported individuals who possess heterozygous TRIO variants and we review the literature. In addition, functional studies were performed on the c.4394A > G (N1465S) and c.6244-2A > G TRIO variants to provide evidence for their pathogenicity. Variants reported by the current study include missense variants, truncating nonsense variants, and an intragenic deletion. Clinical features were previously described and included developmental delay, learning difficulties, microcephaly, macrocephaly, seizures, behavioral issues (aggression, stereotypies), skeletal problems including short, tapering fingers and scoliosis, dental problems (overcrowding/delayed eruption), and variable facial features. Here, we report clinical features that have not been described previously, including specific structural brain malformations such as abnormalities of the corpus callosum and ventriculomegaly, additional psychological and dental issues along with a more recognizable facial gestalt linked to the specific domains of the TRIO gene and the effect of the variant upon the function of the encoded protein. This current study further strengthens the genotype-to-phenotype correlation that was previously established and extends the range of phenotypes to include structural brain abnormalities, additional skeletal, dental, and psychiatric issues.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

GEFD
macrocephaly
microcephaly
phenotype
spectrin
TRIO gene

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