{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:07:12Z","timestamp":1773832032680,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,8,8]],"date-time":"2021-08-08T00:00:00Z","timestamp":1628380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a rare non\u2010syndromic defect with an autosomal recessive pattern of inheritance. Sequence variants in the <jats:italic>BHLHA9<\/jats:italic> gene cause MSSD and to date only a few mutations in this gene have been reported. In the present report, we have described a consanguineous Iranian family segregating MSSD in an autosomal recessive manner. The family had two affected siblings showing evidence of camptodactyly in some fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals, and associated single phalanx in both right and left hand. Whole exome sequencing (WES) followed by segregation analysis using Sanger sequencing identified a novel homozygous frameshift variation [c.74_74delG p.(G25Afs*55)] in the <jats:italic>BHLHA9<\/jats:italic> gene. This has expanded the spectrum of mutations in the <jats:italic>BHLHA9<\/jats:italic> and will facilitate genetic counseling in Iranian families segregating MSSD\u2010related phenotypes.<\/jats:p>","DOI":"10.1111\/cga.12439","type":"journal-article","created":{"date-parts":[[2021,7,17]],"date-time":"2021-07-17T03:26:28Z","timestamp":1626492388000},"page":"220-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Whole exome sequencing identified a novel frameshift variant in the <scp>BHLHA9<\/scp> in an Iranian family with mesoaxial synostotic syndactyly"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6973-4809","authenticated-orcid":false,"given":"Sahar Sadat","family":"Sedighzadeh","sequence":"first","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Sedaghat","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"},{"name":"Health Research Institute, Diabetes Research Center Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mina","family":"Zamani","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahere","family":"Seifi","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"},{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"},{"name":"Ahvaz Jundishapur University of Medical Sciences Department of Medical Genetics, Faculty of Medicine  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jawaher","family":"Zeighami","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neda","family":"Mazaheri","sequence":"additional","affiliation":[{"name":"Narges Medical Genetics and Prenatal Diagnosis Laboratory  Ahvaz Khuzestan Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid 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