{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T01:32:07Z","timestamp":1722821527071},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"8","funder":[{"name":"Ethics Committee of Chengdu Women\u2019s and Children\u2019s Central Hospital, School of Medicine, University of Electronic Science and Technology of China"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0480_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Niemann\u2013Pick disease type A (NPDA, MIM: 257200) is an autosomal recessive sphingolipidosis caused by lysosomal acid sphingomyelinase (ASM) deficiency. A cluster of genes located at chromosome 11p15 have been reported to be imprinted genes, such as TSSC5, TSSC3, and ZNF215 that flanking SMPD1 gene. It was reported by a few recent studies that SMPD1 gene was paternally imprinted and maternally preferentially expressed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0480_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A five-month-old boy with severe anemia, hepatosplenomegly and bone marrow foam cells was recruited from a complete cousin couple. To determine whether boy suffered from NPDA, ASM activity and SMPD1 gene sequencing were performed on available individuals of this pedigree including the proband, his parents and sister. The ASM activities of proband and parents showed deficiency (17.7\u00a0nmol\/h\/g-protein) and about 50% decreased (83.3\u00a0nmol\/h\/g-protein), respectively, compared with normal controls (204.5\u00a0nmol\/h\/g-protein). SMPD1 gene sequencing in the proband revealed a homozygous mutation c.1420_1421del, which leads to an open reading frameshift and a premature stop codon. The parents and some individuals of this family demonstrated heterozygous mutation at this locus. To investigate whether SMPD1 gene is imprinted as reported previously, the expression of RNA level was studied in the whole family members available. The members with heterozygous mutation for c.1420_1421del showed that both paternal and maternal inherited alleles were expressed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0480_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study reported a c.1420_1421del mutation in SMPD1 gene which caused ASM activity decrease and this locus was biallelically expressed in heterozygous subjects implicating SMPD1 is not imprinted in this family.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0480","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T16:35:03Z","timestamp":1653582903000},"page":"1113-1116","source":"Crossref","is-referenced-by-count":1,"title":["A 2-bp deletion mutation in <i>SMPD1<\/i> gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree"],"prefix":"10.1515","volume":"35","author":[{"given":"Han","family":"Kang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Department, Chengdu Women\u2019s and Children\u2019s Central Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhou","sequence":"additional","affiliation":[{"name":"Section of Hematology, Chengdu Women\u2019s and Children\u2019s Central Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengxiu","family":"Xie","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Department, Chengdu Women\u2019s and Children\u2019s Central Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kangmo","family":"Lu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Department, Chengdu Women\u2019s and Children\u2019s Central Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , P.R. China"},{"name":"Prenatal Diagnosis Center , The Eighth Affiliated Hospital Sun Yat-sen University , Shenzhen , P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"2023033122070776310_j_jpem-2021-0480_ref_001","doi-asserted-by":"crossref","unstructured":"Schuchman, EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann\u2013Pick disease. J Inherit Metab Dis 2007;30:654\u201363. https:\/\/doi.org\/10.1007\/s10545-007-0632-9.","DOI":"10.1007\/s10545-007-0632-9"},{"key":"2023033122070776310_j_jpem-2021-0480_ref_002","doi-asserted-by":"crossref","unstructured":"McGovern, MM, Avetisyan, R, Sanson, BJ, Lidove, O. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). 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