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
Affiliations
Maria Fourikou
3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece; Corresponding author.
Aristea Karipiadou
3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
Athina Ververi
Centre for Genetics of Rare Diseases, Papageorgiou General Hospital, Agiou Pavlou 76, Pavlos Melas 564 29, Thessaloniki, Greece
Parthena Savvidou
3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
Nikolaos Laliotis
Department of Orthopaedics, Inter Balkan Medical Center, Asklipiou 10, 57001 Pylaia, Thessaloniki, Greece
Vassilios Tsitouras
2nd Neurosurgery Department, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
Stella Stabouli
1st Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
Emmanuel Roilides
3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
Konstantinos Kollios
3rd Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Konstantinoupoleos 49, 54642 Thessaloniki, Greece
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.
