Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …

Background RPGR mutations are the most common cause of X-linked retinitis pigmentosa
(XLRP). High myopia has been described as a very frequent feature among affected female …

Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in
diverse physiological processes, including embryonic development, neurological function …

Background Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by
cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia …

In humans, inositol polyphosphate-5-phosphatase e (INPP5E) mutations cause retinal
degeneration as part of Joubert and MORM syndromes and can also cause non-syndromic …

Inherited retinal diseases (IRDs) may have significant diagnostic challenges due to their
genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome …

INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in
regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane …

Primary cilia are crucial for neurogenesis, and cilium-related genes are involved in the
closure of neural tubes. Inositol polyphosphate-5-phosphatase (Inpp5e) was enriched in …