{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:43:53Z","timestamp":1790419433606,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,10]],"date-time":"2018-01-10T00:00:00Z","timestamp":1515542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (<jats:italic>NPR2, GDF5<\/jats:italic>, and <jats:italic>BMPR1B<\/jats:italic>).<\/jats:p><jats:p>A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter\u2013Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7.78\u2009Mb homozygous region on chromosome 4q22.3, which harbors <jats:italic>BMPR1B<\/jats:italic>. Sequence analysis of the gene revealed a novel homozygous missense variant (c.1190T\u00a0&gt;\u00a0G, p.Met397Arg) that segregates with the disease phenotype within the family and produced a Logarithm of odds (LOD) score of 3.9 with the disease phenotype. This study reports on the first familial case of acromesomelic dysplasia Hunter\u2013Thompson type. It is also the first report of <jats:italic>BMPR1B<\/jats:italic> underlying the etiology of acromesomelic dysplasia Hunter\u2013Thompson type.<\/jats:p>","DOI":"10.1111\/ahg.12233","type":"journal-article","created":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T03:57:19Z","timestamp":1515643039000},"page":"129-134","source":"Crossref","is-referenced-by-count":16,"title":["A novel homozygous variant in <i>BMPR1B<\/i> underlies acromesomelic dysplasia Hunter\u2013Thompson type"],"prefix":"10.1111","volume":"82","author":[{"given":"Asmat","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dost","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Chandka Medical College Shaheed Mohtarma Benazir Bhutto Medical University Larkana  Sindh Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Bilal","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwanghyuk","family":"Lee","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne M","family":"Leal","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics, Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1541-7258","authenticated-orcid":false,"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/422013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-102"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023564"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81696-7"},{"key":"e_1_2_8_7_1","article-title":"Acromesomelic dysplasia Hunter\u2010Thompson type","author":"Faivre 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