Genomic coordinate 9:136,428,619
Here I present: “Joubert Syndrome“, Victor McKusick, Mendelian Imheritance in Man’, 1966. (INPP5E) 朱伯特症候群。 icd10=Q04.3
INTRODUCTION.
Joubert syndrome (JS) is a genetic neurological disorder characterized by abnormal development of the cerebellar vermis (the area of the brain that controls balance and coordination) and brainstem malformations.
Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic ‘molar tooth sign,’ and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies.
There is evidence that Joubert syndrome is caused by mutation in the inositol polyphosphate-5-phosphatase (INPP5E) gene encoded on cytogenetic location 9q34.3 and genomic coordinate 9:136,428,619. Inositol polyphosphate-5-phosphatase cleaves the 5-position phosphate from soluble inositol phosphates & inositol phospholipids.
