{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T22:59:38Z","timestamp":1789253978280,"version":"build-2803163510"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>Introduction:  Vitamin D Dependent Rickets Type IA (VDDR1A) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25-dihydroxyvitamin D due to mutations in the CYP27B1 gene which encodes for 1\u03b1-hydroxylase. The present study aims to evaluate the clinical characteristics, molecular genetic aetiology, and long-term outcomes of a large nationwide cohort of children with VDDR1A from Turkey.\n\nMethod: In this multi-centre retrospective cross-sectional study, we collected clinical characteristics, laboratory features, molecular genetic analysis results and long-term follow-up of a nationwide cohort of patients with VDDRIA from across the country using a web-based research network, CEDD-NET, for pediatric endocrinology research. \n\nResults: In total 118 patients (57 F, 61 M) with VDDR1A were recruited. The median age of the diagnosis was 1.7 years (0.2 - 18.3 years). The most common presenting complaints were skeletal deformity (n=61), short stature (n=45), and delay in walking (n=42). The most common mutation was a splice donor site mutation (c.195+2T&gt;G) (n=42), followed by a 7-bp duplication 1319\u20131325dupCCCACCC (Phe443Profs*24) (n=25), and two missense mutations p.K192E (c.574A&gt;G) (n=17) and c.1474C&gt;T (p.R492W) (n=12). The novel c.195+2T&gt;C and c.1215_1215+2delTGTinsCGA splice site and c.1144C&gt;A missense variants were firstly described in our cohort. \nConclusion: The most common four mutations accounted for the underlying aetiology of VDDR1A in approximately 81% of the cohort, indicating Turkey may serve as a mutational hotspot or exhibit a founder effect for these variants. The results of our large cohort suggested that there is no a clear and clinically meaningful phenotype-genotype relationship in VDDRIA. \n<\/jats:p>","DOI":"10.1159\/000546497","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T16:02:44Z","timestamp":1751558564000},"page":"1-15","source":"Crossref","is-referenced-by-count":1,"title":["Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1A): A nationwide multi-centre retrospective cross-sectional 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