{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:47:11Z","timestamp":1762004831100},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T00:00:00Z","timestamp":1472428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Higher Education Commission (HEC)"},{"name":"HEC Indigenous Ph.D. Fellowship"},{"name":"HEC International Research Support Initiative Program (IRSIP)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a syndrome. Unbiased genetic screening techniques such as exome sequencing are highly appropriate methods to provide a molecular diagnosis in patients with polydactyly due to the large number of mutated genes associated with it. The present study describes a consanguineous family of Pakistani origin with PAP, speech impairment, hearing impairment of variable degree, and proportionate short stature with no prominent intellectual disability or ophthalmological abnormalities. One affected individual of the family was subjected to exome sequencing which resulted in the identification of four homozygous variants including an in\u2010frame deletion (c.1115_1117delCCT; p.(Ser372del) in <jats:italic>MKS1<\/jats:italic>, which was later shown to be the only variant segregating with the phenotype. In silico predictions supported the potential pathogenicity of the identified mutation. Additional clinical tests and MRI features of a patient in the family showed a molar tooth sign, which is a hallmark of Joubert syndrome. In conclusion, we have described a pathogenic variant in the <jats:italic>MKS1<\/jats:italic> resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the <jats:italic>MKS1<\/jats:italic>. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37934","type":"journal-article","created":{"date-parts":[[2016,8,29]],"date-time":"2016-08-29T10:47:10Z","timestamp":1472467630000},"page":"3289-3293","source":"Crossref","is-referenced-by-count":8,"title":["Hypomorphic <i>MKS1<\/i> mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of <i>MKS1<\/i>\u2010related ciliopathies"],"prefix":"10.1002","volume":"170","author":[{"name":"Irfanullah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science and Technology (KUST) Kohat, Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imran","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Nasir","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. 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