{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T16:56:45Z","timestamp":1761929805112},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T00:00:00Z","timestamp":1455062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:p>We have performed whole\u2010exome sequencing in a family trio with a 16\u2010year\u2010old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the <jats:styled-content style=\"fixed-case\">TECPR2<\/jats:styled-content> gene according to a recessive mode of inheritance. The <jats:styled-content style=\"fixed-case\">TECPR2<\/jats:styled-content> gene has been reported as a positive regulator of autophagy which is an essential mechanism for maintaining neuron homeostasis and survival and plays a key role in major adult and pediatric neurodegenerative diseases. Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called <jats:styled-content style=\"fixed-case\">SPG49<\/jats:styled-content> in two previous reports. We propose that both variants causing amino acid substitution, p.<jats:styled-content style=\"fixed-case\">Leu684Val<\/jats:styled-content> and p.<jats:styled-content style=\"fixed-case\">Thr903Met<\/jats:styled-content>, inherited in trans\u2010phase compound heterozygote form, can be responsible for the phenotype observed in our patient. We also consider the possible contribution of a heterozygous variant in the <jats:styled-content style=\"fixed-case\">SPG7<\/jats:styled-content> gene. Sanger sequencing confirmed the segregation of variants within the family tree including the patient's unaffected brother.<\/jats:p>","DOI":"10.1111\/cge.12730","type":"journal-article","created":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T11:36:36Z","timestamp":1453203396000},"page":"182-185","source":"Crossref","is-referenced-by-count":18,"title":["<scp>WES<\/scp> in a family trio suggests involvement of <scp>TECPR2<\/scp> in a complex form of progressive motor neuron disease"],"prefix":"10.1111","volume":"90","author":[{"given":"A.E.","family":"Covone","sequence":"first","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"},{"name":"DINOGMI Universit\u00e0 degli Studi di Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Trucco","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Morana","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ravazzolo","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"},{"name":"DINOGMI Universit\u00e0 degli Studi di Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Minetti","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini  Genova Italy"},{"name":"DINOGMI Universit\u00e0 degli Studi di Genova  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1536-7"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1026"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160325.113"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009262"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.09.015"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.191"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09204"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12730","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12730","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:14:16Z","timestamp":1694326456000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12730"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,10]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1111\/cge.12730"],"URL":"https:\/\/doi.org\/10.1111\/cge.12730","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,10]]}}}