{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T07:16:52Z","timestamp":1785827812873,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,2,8]],"date-time":"2019-02-08T00:00:00Z","timestamp":1549584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Heterozygous mutations in the inverted formin\u20102 (<jats:italic>INF2<\/jats:italic>) gene provoke focal segmental glomerulosclerosis (FSGS) and intermediate Charcot\u2010Marie\u2010Tooth (CMT) disease with FSGS. Here, we report four patients from a three\u2010generation family with a new cryptic splicing <jats:italic>INF2<\/jats:italic> mutation causing autosomal dominant intermediate CMT with minimal glomerular dysfunction. Three males and one female with a mean age of 51\u2009years (26\u201087) presented with a slowly progressive sensorimotor polyneuropathy, pes cavus, and kyphoscoliosis. Mean age at CMT disease onset was 11.5 years (3\u201017), and electrophysiological studies showed demyelinating and axonal features consistent with intermediate CMT. Plasma albumin and creatinine were normal in all four cases, and urine protein was normal in one case and mildly raised in three patients (mean: 0.32\u2009g\/L [0.18\u20100.44], N\u2009&lt; 0.14). Genetic analysis found a c.271C\u2009&gt;\u2009G (p. Arg91Gly) variation in <jats:italic>INF2<\/jats:italic> exon 2, and in vitro splicing assays showed the deletion of the last 120 nucleotides of <jats:italic>INF2<\/jats:italic> exon 2 leading to a 40 amino acids in\u2010frame deletion (p. Arg91_p. Gln130del). This report expands the genetic spectrum of <jats:italic>INF2<\/jats:italic>\u2010associated disorders and demonstrates that <jats:italic>INF2<\/jats:italic> mutations may provoke isolated CMT with no clinically relevant kidney involvement. Consequently, <jats:italic>INF2<\/jats:italic> mutation analysis should not be restricted to individuals with coincident neuropathy and renal disease.<\/jats:p>","DOI":"10.1111\/jns.12308","type":"journal-article","created":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T05:40:05Z","timestamp":1548394805000},"page":"120-124","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A cryptic splicing mutation in the <i>INF2<\/i> gene causing Charcot\u2010Marie\u2010Tooth disease with minimal glomerular dysfunction"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1012-9783","authenticated-orcid":false,"given":"Andoni","family":"Echaniz\u2010Laguna","sequence":"first","affiliation":[{"name":"Department of Neurology, APHP CHU de Bic\u00eatre  Le Kremlin Bic\u00eatre France"},{"name":"French National Reference Center for Rare Neuropathies (NNERF)  Le Kremlin Bic\u00eatre France"},{"name":"INSERM U1195 &amp; Paris\u2010Sud University  Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[{"name":"Centre de Biologie et de Pathologie Est Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,2,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1109122"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010050518"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000436615.58705.c9"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.505"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.297"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0336-9"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-017-3811-4"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0667-9"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm407"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0199-8"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/cm.21409"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000450"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0000000000000047"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12308","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12308","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jns.12308","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T05:10:32Z","timestamp":1694409032000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,8]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1111\/jns.12308"],"URL":"https:\/\/doi.org\/10.1111\/jns.12308","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,8]]},"assertion":[{"value":"2018-12-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}