{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T07:31:46Z","timestamp":1780990306105,"version":"3.54.1"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_pp-2020-0132_abs_001_w2aab3b7c30b1b6b1aab1c15b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hyperinsulinemic hypoglucemia (HH) is characterized by a dysregulation of insulin secretion from pancreatic <jats:italic>\u03b2<\/jats:italic> cells. Congenital hyperinsulinism has been associated with specific genes in monogenic forms and also with other diseases with a yet unknown genetic cause. In 2017, Rubio Cabezas et\u00a0al. described the association of HH and autosomal recessive polycystic kidney disease (ARPKD) with a promoter mutation in the <jats:italic>PMM<\/jats:italic>2 gene. They found that all the patients carried a promoter mutation (c-167G&gt;T) in <jats:italic>PMM<\/jats:italic>2, either homozygous or in trans with a second <jats:italic>PMM<\/jats:italic>2 coding mutation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_pp-2020-0132_abs_002_w2aab3b7c30b1b6b1aab1c15b2Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed the study of the <jats:italic>PMM<\/jats:italic>2 gene in six patients from four unrelated families, previously diagnosed with ARPKD and HH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_pp-2020-0132_abs_003_w2aab3b7c30b1b6b1aab1c15b3Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All these patients had in common the heterozygous variant c-167G&gt;T in the promoter region for <jats:italic>PMM<\/jats:italic>2. Additionally, each patient carried a compound heterozygote for a second missense mutation in this gene (p.Arg141His, p.Asp148Asn or p.Phe157Ser), previously reported as pathogenic for congenital disorder of glycosylation type Ia, with an autosomal recessive inheritance pattern. Unlike the previous published article, two of our patients showed altered type 1 pattern and one of them with rectal bleeding that could be a sign of PMM2-congenital disorders of glycosylation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_pp-2020-0132_abs_004_w2aab3b7c30b1b6b1aab1c15b4Aa\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We propose the study of this gene when carrying out the diagnosis of patients with HH, especially in the neonatal period and when a recessive polycystic kidney disease without alterations in PKDH1 is diagnosed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0168","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T19:57:11Z","timestamp":1598644631000},"page":"1283-1288","source":"Crossref","is-referenced-by-count":11,"title":["Mutations in <i>PMM<\/i>2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1240-0496","authenticated-orcid":false,"given":"Francisca","family":"Moreno Maci\u00e1n","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"De Mingo Alemany","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Le\u00f3n Cari\u00f1ena","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Ortega L\u00f3pez","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Rausell Felix","sequence":"additional","affiliation":[{"name":"Metabolopathies Unit, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Aparisi Navarro","sequence":"additional","affiliation":[{"name":"Genomic Unit Health Research Institute, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8922-6836","authenticated-orcid":false,"given":"Marina","family":"Martinez Matilla","sequence":"additional","affiliation":[{"name":"Genomic Unit Health Research Institute, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cardona Gay","sequence":"additional","affiliation":[{"name":"Genomic Unit Health Research Institute, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0589-2584","authenticated-orcid":false,"given":"Francisco","family":"Martinez Castellano","sequence":"additional","affiliation":[{"name":"Genomic Unit Health Research Institute, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Albiach Mesado","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, Hospital Universitari i Politecnic La Fe , Valencia , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"2025050302151513020_j_jpem-2020-0168_ref_001_w2aab3b7c30b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Stanley, CA. 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