{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T22:48:12Z","timestamp":1794523692291,"version":"4.9.1"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with extensive Mongolian spots on the trunk and extremities that provided clue to clinical diagnosis. All patients exhibited psychomotor delay, coarse facies, hepatosplenomegaly, hypotonia, and dysostosis multiplex. Four patients had retinal cherry-red spots. The condition was confirmed by identification of very low activities of beta-galactosidase enzyme in peripheral leukocytes and biallelic pathogenic variants in the <jats:italic toggle=\"yes\">GLB1<\/jats:italic> gene. We identified one novel (c.1479G&gt;T) and two known (c.75\u2009+\u20092dup and c.1369C&gt;T) pathogenic variants in homozygous state in them. Our work ascertains extensive Mongolian spots as a diagnostic handle for early recognition of GM1 gangliosidosis. Though a known feature of GM1 gangliosidosis, considerable variation in the prevalence and ethnic differences are observed. This report illustrates the Mongolian spots pictorially in Indian patients.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000353","type":"journal-article","created":{"date-parts":[[2020,10,9]],"date-time":"2020-10-09T16:02:33Z","timestamp":1602259353000},"page":"6-9","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Mongolian spots in GM1 gangliosidosis: a pictorial report"],"prefix":"10.1097","volume":"30","author":[{"given":"Shivani","family":"Mishra","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranita","family":"Pai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anusha","family":"Uttarilli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2020,10,7]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.pediatrneurol.2005.07.010","article-title":"Extensive Mongolian spots: a clinical sign merits special attention.","volume":"34","author":"Ashrafi","year":"2006","journal-title":"Pediatr Neurol"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1177\/014107689208500922","article-title":"Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one.","volume":"85","author":"Beattie","year":"1992","journal-title":"J R Soc Med"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1111\/j.1399-0004.1989.tb03367.x","article-title":"Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.","volume":"36","author":"Beratis","year":"1989","journal-title":"Clin Genet"},{"key":"R4-20250524","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.gene.2015.04.078","article-title":"Recurrent and novel GLB1 mutations in India.","volume":"567","author":"Bidchol","year":"2015","journal-title":"Gene"},{"key":"R5-20250524","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","article-title":"GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.","volume":"94","author":"Brunetti-Pierri","year":"2008","journal-title":"Mol Genet Metab"},{"key":"R6-20250524","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1177\/000992288102001105","article-title":"The Mongolian spot: a study of ethnic differences and a literature review.","volume":"20","author":"Cordova","year":"1981","journal-title":"Clin Pediatr (Phila)"},{"key":"R7-20250524","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1136\/jmg.14.2.132","volume":"14","author":"Ginsburg","year":"1977","journal-title":"J Med Genet"},{"key":"R8-20250524","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1001\/archderm.139.7.916","article-title":"Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.","volume":"139","author":"Hanson","year":"2003","journal-title":"Arch Dermatol"},{"key":"R9-20250524","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000113798","article-title":"The GM1 gangliosidosis (Landing disease).","volume":"2","author":"Hooft","year":"1969","journal-title":"Eur Neurol"},{"key":"R10-20250524","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.1365-4362.1982.tb02055.x","article-title":"What is a Mongolian spot?","volume":"21","author":"Kikuchi","year":"1982","journal-title":"Int J Dermatol"},{"key":"R11-20250524","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1001\/archpedi.1964.02090010505010","article-title":"Familial neurovisceral lipidosis. An analysis of eight cases of a syndrome previously reported as \u201churler-variant,\u201d \u201cpseudo-hurler,\u201d and \u201ctay-sachs disease with visceral involvement\u201d.","volume":"108","author":"Landing","year":"1964","journal-title":"Am J Dis Child"},{"key":"R12-20250524","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/humu.1380030205","article-title":"Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.","volume":"3","author":"Morrone","year":"1994","journal-title":"Hum Mutat"},{"key":"R13-20250524","doi-asserted-by":"crossref","first-page":"5087","DOI":"10.1073\/pnas.92.11.5087","article-title":"Ganglioside GM1 binds to the Trk protein and regulates receptor function.","volume":"92","author":"Mutoh","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"R14-20250524","first-page":"566","article-title":"GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.","volume":"49","author":"Nishimoto","year":"1991","journal-title":"Am J Hum Genet"},{"key":"R15-20250524","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1111\/j.1468-3083.2007.02203.x","article-title":"Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients.","volume":"21","author":"Ochiai","year":"2007","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"R16-20250524","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.160.3831.1002","article-title":"Generalized gangliosidosis: beta-galactosidase deficiency.","volume":"160","author":"Okada","year":"1968","journal-title":"Science"},{"key":"R17-20250524","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/S0190-9622(89)70098-0","article-title":"Hyperpigmented macules and patches in a patient with GM1 type 1 gangliosidosis.","volume":"20","author":"Selsor","year":"1989","journal-title":"J Am Acad Dermatol"},{"key":"R18-20250524","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1365-2133.1981.tb00045.x","article-title":"Report of an infant with GM1 gangliosidosis type I and extensive and unusual Mongolian spots.","volume":"104","author":"Weissbluth","year":"1981","journal-title":"Br J Dermatol"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:03:10Z","timestamp":1748131390000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,7]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000353","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2020,10,7]]}}}