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

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Fältnamn	Indikatorer	Metadata
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001		oai:DiVA.org:uu-507639
003		SwePub
008		230710s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:152972161
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5076392 URI
024	7	a https://doi.org/10.1002/ajmg.a.631942 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1529721612 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
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072	7	a for2 swepub-publicationtype
100	1	a Gazdagh, Gabriellau 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.4 aut
245	1 0	a Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
264		c 2023-03-29
264	1	b Wiley-Blackwell,c 2023
338		a electronic2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a GEFD
653		a macrocephaly
653		a microcephaly
653		a phenotype
653		a spectrin
653		a TRIO gene
700	1	a Hunt, Davidu Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.4 aut
700	1	a Gonzalez, Anna Maria Cuetou Vall dHebron Barcelona Hosp Campus, Dept Clin & Mol Genet, Barcelona, Spain.4 aut
700	1	a Rodriguez, Monserrat Ponsu Hosp Univ Son Espases, Palma De Mallorca 07120, Illes Balears, Spain.4 aut
700	1	a Chaudhry, Ayeshahu Trillium Hlth Partners, Dept Lab Med & Genet, Mississauga, ON, Canada.;Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.4 aut
700	1	a Madruga, Marcosu Karolinska Institutet4 aut
700	1	a Vansenne, Fleuru Univ Med Ctr Groningen, Dept Clin Genet, NL-9713 GZ Groningen, Netherlands.4 aut
700	1	a Shears, Deborahu Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England.4 aut
700	1	a Curie, Auroreu 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.4 aut
700	1	a Stattin, Evalenau Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)evast375
700	1	a Anderlid, Britt-Marieu Karolinska Univ Hosp, Karolinska Inst & Clin Genet, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700	1	a Trajkova, Slavicau Univ Turin, Dept Med Sci Med Genet & Rare Dis, Turin, Italy.4 aut
700	1	a Angelovska, Elena Sukarovau Univ Sv Kiril & Metodij, Dept Endocronol & Genet, Fac Med, Univ Clin Childrens Dis, Skopje, North Macedonia.4 aut
700	1	a McWilliam, Catherineu Ninewells Hosp, NHS Tayside, Dundee, Scotland.4 aut
700	1	a Wyatt, Philip R.u York Cent Hosp, Dept Obstet & Gynecol, Toronto, ON, Canada.4 aut
700	1	a O'Driscoll, Maryu West Midlands Reg Genet Serv, Birmingham, W Midlands, England.4 aut
700	1	a Atton, Gilesu Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.4 aut
700	1	a Bergman, Anke K.u Inst Human Genet, Hannover Med Sch, Hannover, Germany.4 aut
700	1	a Zacher, Piau Epilepsy Ctr Kleinwachau, Radeberg, Germany.;Univ Leipzig Med Ctr, Inst Human Genet, Leipzig, Germany.4 aut
700	1	a Mewasingh, Leena D.u Imperial Coll Healthcare NHS Trust, Dept Paediat Neurol, London, England.4 aut
700	1	a Lopez, Antonio Gonzalez-Menesesu Univ Seville, Unidad Dismorfol, Unidad Gest Clin Pediat, Hosp Univ Virgen Rocio,Pediat Dept, Seville, Spain.4 aut
700	1	a Alonso-Luengo, Olgau Univ Seville, Secc Neurol Pediat, Unidad Gest Clin Pediat, Hosp Univ Virgen Rocio,Pediat Dept, Seville, Spain.4 aut
700	1	a Wai, Htoo A.u Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.4 aut
700	1	a Rohde, Ottilieu Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.4 aut
700	1	a Boiroux, Paulineu Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.4 aut
700	1	a Debant, Anneu Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.4 aut
700	1	a Schmidt, Susanneu Univ Montpellier CNRS, Ctr Rech Biol Cellulaire Montpellier CRBM, Montpellier, France.4 aut
700	1	a Baralle, Dianau Univ Southampton, Fac Med, Human Dev & Hlth, Southampton, Hants, England.4 aut
710	2	a 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.b Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.4 org
773	0	t American Journal of Medical Genetics. Part Ad : Wiley-Blackwellg 191:7, s. 1722-1740q 191:7<1722-1740x 1552-4825x 1552-4833
856	4	u https://doi.org/10.1002/ajmg.a.63194y Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:1781532/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-507639
856	4 8	u https://doi.org/10.1002/ajmg.a.63194
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:152972161

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