{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:44:39Z","timestamp":1790945079372,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,2,5]],"date-time":"2018-02-05T00:00:00Z","timestamp":1517788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with 3 affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c.149\u2009T\u2009&gt;\u2009C; p.(Ile50Thr)] in <jats:italic>INPP5K<\/jats:italic>. Inositol polyphosphate\u20105\u2010phosphatase K, encoded by <jats:italic>INPP5K<\/jats:italic>, is involved in dephosphorylation of phosphatidylinositol (PtdIns) 4,5\u2010bisphosphate, and PtdIns 3,4,5\u2010trisphosphate. Recently, pathogenic variants in <jats:italic>INPP5K<\/jats:italic> have been reported in families with congenital muscular dystrophies, intellectual disability, and cataract. In our family LUCC15, mild to moderate intellectual disability along with speech impairment was observed in 2 affected individuals. Magnetic resonance imaging of brain and muscles tissues did not reveal any cerebellar or muscular atrophy. However, electromyography of both upper and lower limbs revealed irritable myopathy. Comparison of clinical phenotype of all the known affected individuals, including LUCC15 family, homozygous for <jats:italic>INPP5K<\/jats:italic> alleles revealed reduced penetrance of muscular dystrophy and intellectual disability. Similarly, skeletal muscle abnormalities were highly variable among <jats:italic>inpp5ka<\/jats:italic> zebrafish mutants analyzed in this study. These phenotypic variabilities may be due to epigenetic factors and\/or genetic modifiers.<\/jats:p>","DOI":"10.1111\/cge.13143","type":"journal-article","created":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T15:20:55Z","timestamp":1506093655000},"page":"682-686","source":"Crossref","is-referenced-by-count":22,"title":["<i>INPP5K<\/i> variant causes autosomal recessive congenital cataract in a Pakistani family"],"prefix":"10.1111","volume":"93","author":[{"given":"S.","family":"Yousaf","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery School of Medicine University of Maryland  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Sheikh","sequence":"additional","affiliation":[{"name":"Molecular Biology &amp; Genetics Department Liaquat University of Medical &amp; Health Sciences  Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Riazuddin","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery School of Medicine University of Maryland  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2596-9032","authenticated-orcid":false,"given":"A.M.","family":"Waryah","sequence":"additional","affiliation":[{"name":"Molecular Biology &amp; Genetics Department Liaquat University of Medical &amp; Health Sciences  Jamshoro Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2914-4502","authenticated-orcid":false,"given":"Z.M.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2010Head and Neck Surgery School of Medicine University of Maryland  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrs.2016.11.006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrs.2016.08.015"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-1481"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0979"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.06.011"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2007.10.003"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.15.10870"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.019"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.024"},{"key":"e_1_2_6_11_1","article-title":"Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability","author":"Riazuddin S","year":"2016","journal-title":"Mol Psychiatry"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0898-6568(01)00158-9"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.11.018"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13143","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13143","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T17:20:33Z","timestamp":1695662433000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,5]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1111\/cge.13143"],"URL":"https:\/\/doi.org\/10.1111\/cge.13143","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,5]]}}}