{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T19:25:45Z","timestamp":1769282745208,"version":"3.49.0"},"reference-count":56,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,4,30]],"date-time":"2014-04-30T00:00:00Z","timestamp":1398816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uniparental disomy is a genetic cause of disease that may result in the inheritance of an autosomal recessive condition. A child with developmental delay and hypotonia was seen and found to have severely abnormal myelination. Lysosomal enzyme testing identified an isolated deficiency of beta\u2010galactosidase. Subsequently, homozygous missense mutations in the galactosidase, beta 1 (<jats:italic>GLB1<\/jats:italic>) gene on chromosome 3 were found. Parental testing confirmed inheritance of two copies of the same mutated maternal <jats:italic>GLB1<\/jats:italic> gene, and no paternal copy. SNP analysis was also done to confirm paternity. The patient was ultimately diagnosed with autosomal recessive GM1 gangliosidosis caused by maternal uniparental isodisomy. We provide a review of this patient and others in which uniparental disomy (UPD) of a non\u2010imprinted chromosome unexpectedly caused an autosomal recessive condition. This is the first case of GM1 gangliosidosis reported in the literature to have been caused by UPD. It is important for genetic counselors and other health care providers to be aware of the possibility of autosomal recessive disease caused by UPD. UPD as a cause of autosomal recessive disease drastically changes the recurrence risk for families, and discussions surrounding UPD can be complex. Working with families to understand UPD when it occurs requires a secure and trusting counselor\u2010family relationship.<\/jats:p>","DOI":"10.1007\/s10897-014-9720-9","type":"journal-article","created":{"date-parts":[[2014,4,28]],"date-time":"2014-04-28T22:48:05Z","timestamp":1398725285000},"page":"734-741","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report"],"prefix":"10.1002","volume":"23","author":[{"given":"Jessica E.","family":"King","sequence":"first","affiliation":[{"name":"Department of Neurology Children's National Medical Center 111 Michigan Ave. NW Washington DC 20010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Dexter","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Research Triangle Park NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inder","family":"Gadi","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Research Triangle Park NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val","family":"Zvereff","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Research Triangle Park NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meaghan","family":"Martin","sequence":"additional","affiliation":[{"name":"Laboratory Corporation of America Research Triangle Park NC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Bloom","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Medical Center 111 Michigan Ave. NW Washington DC 20010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Vanderver","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Medical Center 111 Michigan Ave. NW Washington DC 20010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Pizzino","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Medical Center 111 Michigan Ave. NW Washington DC 20010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna L.","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Medical Center 111 Michigan Ave. NW Washington DC 20010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117339"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01828.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-010-9448-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.3.1164"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33462"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000305963.37449.32"},{"issue":"2","key":"e_1_2_6_8_1","first-page":"431","article-title":"Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency","volume":"59","author":"Benlian P.","year":"1996","journal-title":"The American Journal of Human Genetics"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.036897"},{"issue":"3","key":"e_1_2_6_10_1","first-page":"482","article-title":"Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy","volume":"54","author":"Brzustowicz L. 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