Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic "molar tooth" sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.
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PMID:Review of Ocular Manifestations of Joubert Syndrome. 3051 38

Some mutations in FGFR1 affect the sense of smell while others do not, resulting in Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH), respectively. The underlying mechanism is still unclear. FGFR1 variants are found in less than 10% of patients with KS and nIHH, and among them, only some have undergone functional analysis. Thus, the correlation between the phenotype and genotype cannot be clearly verified. This study reports a case of nIHH and explores the potential mechanism of the FGFR1 gene in the pathogenesis of nIHH. A preschooler with cryptorchidism, micropenis, strabismus, and hypopsia is described. As he had a normal sense of smell, he was diagnosed with nIHH. A de novo mutation in FGFR1 (c.2008G>A) was detected in the patient along with a novel variant in CEP290 (c.964G>A) inherited from his mother. We present compelling in vitro evidence that this FGFR1 mutation-induced posttranslational modification defect, including defective glycosylation and impaired trans-autophosphorylation, along with the final reduction in expression, could lead to impairment of the receptor and abnormal signaling and eventually result in developmental abnormalities and inhibition of GnRH neuron release. The identification of an additional variant suggests that CEP290 might play a potential role in GnRH development.
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PMID:Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism. 3329 22