{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:56:38Z","timestamp":1758192998355,"version":"3.44.0"},"reference-count":10,"publisher":"Necmettin Erbakan University Press","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is \u03b1-N acetylglucosaminidase. This enzyme is encoded by the NAGLU gene. A 9-year-old male patient was referred to us with speech disability, developmental delay, hepatomegaly, mild learning disability, and otitis media with effusion complaints. Whole exome sequencing (WES) was performed because of consanguinity between the parents of the patient and the lack of specific prediagnosis. As a result of the patient's WES analysis, a homozygous mutation was detected in the NAGLU gene. The leukocyte enzyme activity was then evaluated to confirm the diagnosis. Alpha-N acetylglucosaminidase deficiency was found. Alpha-N acetylglucosaminidase activity was 0.2\u2009nmol\/mLh. WES is a successful diagnostic method in the diagnosis of the mild clinical diseases with recessive inheritance. In addition, our case is a good example of genotype to phenotype diagnosis. Because in storage diseases, the diagnosis is made by leukocyte enzyme analysis first, and then the result is confirmed by gene analysis. The opposite situation occurred in our case.<\/jats:p>","DOI":"10.1055\/s-0040-1708555","type":"journal-article","created":{"date-parts":[[2020,3,31]],"date-time":"2020-03-31T19:37:27Z","timestamp":1585683447000},"page":"074-076","source":"Crossref","is-referenced-by-count":2,"title":["Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5626-2160","authenticated-orcid":false,"given":"Muhsin","family":"Elmas","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Basak","family":"Gogus","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-2835","authenticated-orcid":false,"given":"Furkan","family":"K\u0131l\u0131\u00e7arslan","sequence":"additional","affiliation":[{"name":"Faculty of Arts and Sciences, Genetics & Bioinformatics, Bahcesehir University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6013-5172","authenticated-orcid":false,"given":"Aysegul","family":"Bukulmez","sequence":"additional","affiliation":[{"name":"Pediatry Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5348-9645","authenticated-orcid":false,"given":"Mustafa","family":"Solak","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,3,31]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.cca.2006.03.029","article-title":"Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases","volume":"372","author":"G Civallero","year":"2006","journal-title":"Clin Chim Acta"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/humu.1189","article-title":"Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications","volume":"18","author":"G Yogalingam","year":"2001","journal-title":"Hum Mutat"},{"issue":"18","key":"ref3","doi-asserted-by":"crossref","first-page":"6560","DOI":"10.1073\/pnas.0711491105","article-title":"Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB","volume":"105","author":"E Ficko-Blean","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"01","key":"ref4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.1320280118","article-title":"Follow-up on seven adult patients with mild Sanfilippo B-disease","volume":"28","author":"H M van Schrojenstein-de Valk","year":"1987","journal-title":"Am J Med Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s10545-005-0093-y","article-title":"Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)","volume":"28","author":"C EB Eesley","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/S0925-4439(00)00066-1","article-title":"Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant K - N -acetylglucosaminidase and relationship with Sanfilippo phenotype in an attenuated patient","volume":"15","author":"G Yogalingam","year":"2000","journal-title":"Biochim Biophys Acta"},{"issue":"06","key":"ref7","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1111\/j.1399-0004.1979.tb00832.x","article-title":"Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship","volume":"15","author":"G Andria","year":"1979","journal-title":"Clin Genet"},{"issue":"06","key":"ref8","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1002\/ccr3.1521","article-title":"A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)","volume":"6","author":"D Hettiarachchi","year":"2018","journal-title":"Clin Case Rep"},{"issue":"03","key":"ref9","first-page":"105","article-title":"An uncommon presentation of mucopolysaccharidosis type IIIb","volume":"13","author":"A Rezayi","year":"2019","journal-title":"Iran J Child Neurol"},{"issue":"12","key":"ref10","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1002\/ccr3.1844","article-title":"A novel frameshift deletion in NAGLU causing sanfilipo type III-B in an Indian family","volume":"6","author":"S Jain","year":"2018","journal-title":"Clin Case Rep"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1708555.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:52Z","timestamp":1758138352000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1708555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,31]]},"references-count":10,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,2,2]]},"published-print":{"date-parts":[[2021,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1708555","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2020,3,31]]}}}