X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Maria Fourikou; Aristea Karipiadou; Athina Ververi; Parthena Savvidou; Nikolaos Laliotis; Vassilios Tsitouras; Stella Stabouli; Emmanuel Roilides; Konstantinos Kollios

doi:10.1016/j.bonr.2023.101731

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Bone Rep. 2023 Dec 13:20:101731. doi: 10.1016/j.bonr.2023.101731. eCollection 2024 Mar.

Authors

Maria Fourikou¹, Aristea Karipiadou¹, Athina Ververi², Parthena Savvidou¹, Nikolaos Laliotis³, Vassilios Tsitouras⁴, Stella Stabouli⁵, Emmanuel Roilides¹, Konstantinos Kollios¹

Affiliations

¹ 3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
² Centre for Genetics of Rare Diseases, Papageorgiou General Hospital, Agiou Pavlou 76, Pavlos Melas 564 29, Thessaloniki, Greece.
³ Department of Orthopaedics, Inter Balkan Medical Center, Asklipiou 10, 57001 Pylaia, Thessaloniki, Greece.
⁴ 2nd Neurosurgery Department, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.
⁵ 1st Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece.

Abstract

X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-rickets in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia, with a de novo non-canonical splice variant (c.1080-3C > G) in intron 9 of the PHEX gene, that has not been previously described.

Keywords: Chiari syndrome; Craniosynostosis; Phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX); Rickets; Splice-site mutation; X-linked hypophosphatemia.

Publication types

Case Reports