{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T02:15:44Z","timestamp":1776910544010,"version":"3.51.2"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,7,31]],"date-time":"2014-07-31T00:00:00Z","timestamp":1406764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Bonei Olam"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:p>Osteopetrosis is a rare and heterogeneous genetic disorder characterized by dense bone mass that is a consequence of defective osteoclast function and\/or development. Autosomal recessive osteopetrosis (<jats:styled-content style=\"fixed-case\">ARO<\/jats:styled-content>) is the most severe form and is often fatal within the first years of life; early hematopoietic stem cell transplant (<jats:styled-content style=\"fixed-case\">HSCT<\/jats:styled-content>) remains the only curative treatment for <jats:styled-content style=\"fixed-case\">ARO<\/jats:styled-content>. The majority of the <jats:styled-content style=\"fixed-case\">ARO<\/jats:styled-content>\u2010causing mutations are located in the <jats:italic><jats:styled-content style=\"fixed-case\">TCIRG1<\/jats:styled-content><\/jats:italic> gene. We report here the identification and characterization of an A to T transversion in the fourth base of the intron 2 donor splice site (c.117+<jats:styled-content style=\"fixed-case\">4A<\/jats:styled-content>\u2192T) in <jats:italic><jats:styled-content style=\"fixed-case\">TCIRG1<\/jats:styled-content><\/jats:italic>, a mutation not previously seen in the Ashkenazi Jewish (<jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content>) population. Analysis of a random sample of individuals of <jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content> descent revealed a carrier frequency of approximately 1 in 350. Genotyping of five loci adjacent to the c.117+<jats:styled-content style=\"fixed-case\">4A<\/jats:styled-content>\u2192T\u2010containing <jats:italic><jats:styled-content style=\"fixed-case\">TCIRG1<\/jats:styled-content><\/jats:italic> allele revealed that the presence of this mutation in the <jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content> population is due to a single founder. The identification of this mutation will enable population carrier testing and will facilitate the identification and treatment of individuals homozygous for this mutation.<\/jats:p>","DOI":"10.1111\/cge.12448","type":"journal-article","created":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T18:47:54Z","timestamp":1404326874000},"page":"74-79","source":"Crossref","is-referenced-by-count":7,"title":["A founder mutation in the <i><scp>TCIRG1<\/scp><\/i> gene causes osteopetrosis in the Ashkenazi Jewish population"],"prefix":"10.1111","volume":"88","author":[{"given":"S.L.","family":"Anderson","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Fordham University  Bronx NY 10458 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3788-0924","authenticated-orcid":false,"given":"C.","family":"Jalas","sequence":"additional","affiliation":[{"name":"Bonei Olam Center for Rare Jewish Genetic Disorders  Brooklyn NY 11204 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Fedick","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School  Piscataway NJ 08854 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.F.","family":"Reid","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Fordham University  Bronx NY 10458 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.O.","family":"Carpenter","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine Departments of Pediatrics (Endocrinology) and Orthopedics and Rehabilitation  New Haven CT 06520 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Chirnomas","sequence":"additional","affiliation":[{"name":"Yale University School of Medicine Departments of Pediatrics (Endocrinology) and Orthopedics and Rehabilitation  New Haven CT 06520 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.R.","family":"Treff","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Molecular Genetics Rutgers\u2010Robert Wood Johnson Medical School  Piscataway NJ 08854 USA"},{"name":"Reproductive Medicine Associates of New Jersey Department of Research  Morristown NJ 07960 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ekstein","sequence":"additional","affiliation":[{"name":"Dor Yeshorim, The Committee for Prevention of Jewish Diseases  Brooklyn NY 11211 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.Y.","family":"Rubin","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Fordham University  Bronx NY 10458 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra040952"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21447"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-005-0027-6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/77131"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.17.1767"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm729"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309914200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/423146"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014401"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21327"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)44087-9"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.2059"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-011-1878-5"}],"container-title":["Clinical 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