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Inadequate activity of this enzyme results in deficient 1\u03b1\u2010hydroxylation of inactive 25\u2010hydroxyvitamin D to biologically active 1,25\u2010dihydroxyvitamin D, with consequent adverse effects on calcium and phosphate metabolism. A female child was clinically diagnosed at 18\u2009months old with hypophosphatemic rickets based on phenotype and biochemical testing, with neither parent affected. A subsequent affected male sibling led to the reconsideration of the diagnosis. Exome sequencing showed a homozygous <jats:italic>CYP27B1<\/jats:italic> c.1040T&gt;A (p.Ile347Asn) variant for both children. No variants were found in genes associated with hypophosphatemic rickets. A review of published cases of VDDR1A with homozygous <jats:italic>CYP27B1<\/jats:italic> variants indicates variable clinical presentation, lack of genotype\u2013phenotype correlation, and low serum phosphate at diagnosis in most cases. These findings emphasize the clinical importance of molecular testing as part of the diagnostic evaluation for cases of non\u2010nutritional rickets.<\/jats:p>","DOI":"10.1002\/ajmg.a.63780","type":"journal-article","created":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T07:40:30Z","timestamp":1717227630000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Siblings with vitamin D\u2010dependent rickets type <scp>1A<\/scp>: Importance of genetic testing and a review of genotype\u2013phenotype correlations"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1913-2778","authenticated-orcid":false,"given":"Leonard Kuan\u2010Pei","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5015-1462","authenticated-orcid":false,"given":"Manjushree","family":"Shanmugasundaram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7311-2850","authenticated-orcid":false,"given":"Erin","family":"Cooney","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6856-4262","authenticated-orcid":false,"given":"Phillip D. 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