{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T04:41:44Z","timestamp":1694666504705},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10]]},"abstract":"Disorders of steroid synthesis are a group of anomalies caused by defects in any step of conversion of cholesterol into steroid hormones. The disorders are characterized by defects leading to abnormalities of salt-water balance and\/or sexual differentiation. Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of steroid synthesis disorder caused by the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Pathogenic sequence variants in the gene STAR<\/jats:italic> encoding StAR protein leads to CLAH. In the present study, a Pakistani family was clinically diagnosed with the LAH phenotype. Sanger sequencing of STAR<\/jats:italic> in the family revealed a novel homozygous nonsense mutation [c.295G>T, p.(Glu99*)] in the living affected individual. The study was designed to assist in carrier testing and prenatal diagnosis within the affected family. In addition, searching for common variants in the STAR<\/jats:italic> gene would help in designing low-cost targeted variation testing in other patients.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000340","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T14:43:43Z","timestamp":1598625823000},"page":"173-176","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and genetic characterization of congenital lipoid adrenal hyperplasia"],"prefix":"10.1097","volume":"29","author":[{"given":"Asmat","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University"},{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farah","family":"Bibi","sequence":"additional","affiliation":[{"name":"University Institute of Biochemistry & Biotechnology, PMAS \u2013 Arid Agriculture University, Rawalpindi"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nighat","family":"Haider","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, Children Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulbin","family":"Shahid","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medicine, Shaheed Zulfiqar Ali Bhutto Medical University, Children Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamanna","family":"Mustajab","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanwir","family":"Khaliq","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"4781","DOI":"10.1210\/jc.2006-1565","article-title":"Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.","volume":"91","author":"Baker","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"R2-20230913","doi-asserted-by":"crossref","first-page":"1870","DOI":"10.1056\/NEJM199612193352503","article-title":"International Congenital Lipoid Adrenal Hyperplasia Consortium. 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