{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T09:04:50Z","timestamp":1723367090379},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0367_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Ochoa syndrome (UFS1; Urofacial syndrome-1) is a very rare autosomal recessive disorder caused by mutations in the <jats:italic>HPSE2<\/jats:italic> gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene (<jats:italic>SMPD1<\/jats:italic>).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0367_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep and splenomegaly. Homozygote mutations in two different genes responsible for two distinct syndromes were detected in the patient. Homozygous NM_000543.5:c.502G&gt;A (p.Gly168Arg) mutation was found in the <jats:italic>SMPD1<\/jats:italic> gene causing Niemann-Pick disease. In addition, some of the clinical features were due to a novel homozygous mutation identified in the <jats:italic>HPSE2<\/jats:italic> gene, NM_021828.5:c.755delA (p.Lys252SerfsTer23).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0367_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Here, we discuss about the importance of considering dual diagnosis in societies where consanguineous marriages are common. Accurate diagnosis of the patient is very important for the management of the diseases and prevention of complications.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0367","type":"journal-article","created":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T19:58:58Z","timestamp":1614628738000},"page":"653-657","source":"Crossref","is-referenced-by-count":3,"title":["Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family"],"prefix":"10.1515","volume":"34","author":[{"given":"Hande Nur","family":"Cesur Baltac\u0131","sequence":"first","affiliation":[{"name":"Department of Medical Genetics , School of Medicine, Ankara University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elifcan","family":"Ta\u015fdelen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , School of Medicine, Ankara University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vehap","family":"Top\u00e7u","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Dr. Zekai Tahir Burak Women\u2019s Health Research and Education Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma Tuba","family":"Emino\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , School of Medicine, Ankara University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil G\u00fcrhan","family":"Karabulut","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , School of Medicine, Ankara University , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"key":"2023040101405220031_j_jpem-2020-0367_ref_001","doi-asserted-by":"crossref","unstructured":"Bulum, B, \u00d6z\u00e7akar, ZB, Duman, D, Cengiz, FB, Kavaz, A, Burgu, B, et al.. HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction. Nephron 2015;130:54\u20138. https:\/\/doi.org\/10.1159\/000381465.","DOI":"10.1159\/000381465"},{"key":"2023040101405220031_j_jpem-2020-0367_ref_002","doi-asserted-by":"crossref","unstructured":"Roberts, NA, Hilton, EN, Woolf, AS. From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease. Nephrol Dial Transplant 2015;31:534\u201340. https:\/\/doi.org\/10.1093\/ndt\/gfv309.","DOI":"10.1093\/ndt\/gfv309"},{"key":"2023040101405220031_j_jpem-2020-0367_ref_003","doi-asserted-by":"crossref","unstructured":"Stuart, HM, Roberts, NA, Hilton, EN, McKenzie, EA, Daly, SB, Hadfield, KD, et al.. Urinary tract effects of HPSE2 mutations. 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Mol Genet Metabol 2017;120:27\u201333. https:\/\/doi.org\/10.1016\/j.ymgme.2016.12.008.","DOI":"10.1016\/j.ymgme.2016.12.008"},{"key":"2023040101405220031_j_jpem-2020-0367_ref_009","doi-asserted-by":"crossref","unstructured":"Pavl\u016f\u2010Pereira, H, Asfaw, B, Poup\u010dtov\u00e1, H, Ledvinova, J, Sikora, J, Vanier, M, et al.. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty\u2010five Czech and Slovak patients. A multi\u2010approach study. J Inherit Metab Dis 2005;28:203\u201327.","DOI":"10.1007\/s10545-005-5671-5"},{"key":"2023040101405220031_j_jpem-2020-0367_ref_010","doi-asserted-by":"crossref","unstructured":"Lipi\u0144ski, P, Kuchar, L, Zakharova, EY, Baydakova, GV, \u0141ugowska, A, Tylki-Szyma\u0144ska, A. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up. 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