Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.

Autor:	Turan I; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey., Erdem S; Department of Pediatrics, Division of Pediatric Cardiology, Cukurova University Faculty of Medicine, Adana, Turkey., Kotan LD; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey., Ozdemir Dilek S; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey., Tastan M; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey., Gurbuz F; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey., Bişgin A; AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University, Adana, Turkey.; and Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana, Turkey., Karabay Bayazıt A; Department of Pediatrics, Division of Pediatric Nephrology, Cukurova University Faculty of Medicine, Adana, Turkey., Topaloglu AK; Department of Pediatrics, Division of Pediatric Endocrinology, University of Mississippi Medical Center, Jackson, MS, USA., Yuksel B; Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Apr 13; Vol. 34 (5), pp. 639-648. Date of Electronic Publication: 2021 Apr 13 (Print Publication: 2021).
DOI:	10.1515/jpem-2020-0624
Abstrakt:	Objectives: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way. Methods: We investigated clinical and genetic features for 18 consecutive probands and their 17 affected family members with HHR. All patient's clinical and biochemical data were collected. We first analyzed a single gene with Next-generation sequencing if the patients have a strong clue for an individual gene. For the remaining cases, a Hypophosphatemic Rickets gene panel, including all known HHR genes by Next-generation sequencing, was employed. Results: We were able to diagnosis all of the consecutive 35 patients in our tertiary care center. We detected nine novel and 10 previously described variants in PHEX (9; 50%), SLC34A3 (3; 17%), ENPP1 (3; 17%), SLC34A1 (1; 5%), CLCN5 (1; 5%), and DMP1 (1; 5%). Conclusions: To delineate the etiology of HHR cases in a cost and time-efficient manner, we propose single gene analysis by next-generation sequencing if findings of patients indicate a strong clue for an individual gene. If that analysis is negative or for all other cases, a Next-generation Sequence gene panel, which includes all known HHR genes, should be employed. (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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