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Homeostasis of Dopamine
Published in Nira Ben-Jonathan, Dopamine, 2020
The genes for MAO A and B are mapped to adjacent sites on the X chromosome (Xp11.23). Each gene has 15 exons and an identical exon–intron organization, likely resulting from a tandem duplication of a common ancestral gene. Both genes are deleted in patients with Norrie disease, a rare X-linked recessive neurological disorder which is characterized by blindness, hearing loss, mental retardation, and autistic-like behavior [21]. Another rare genetic disease is a selective MAO-A congenital deficiency, named Brunner syndrome. Affected subjects have an unusual aggressive and violent behavior, mild cognitive impairments, and some stereotyped hand movement and sleep disturbances [19].
The eye
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Choroideraemia is a specific X-linked disorder that may be confused with retinitis pigmentosa, especially in its early stages. It is infrequently associated with more generalised, and often severe, developmental problems as part of a contiguous gene deletion syndrome. Norrie disease is the severe end of a spectrum associated with mutation in the NDP gene, which also causes the milder X-linked familial exudative retinopathy. It is associated with progressive deafness and more generalised developmental difficulties in 30%–50% of those affected. Retinoschisis is yet another X-linked disorder, with retinal degeneration associated with a characteristic splitting of the retina, where specific molecular analysis is possible.
A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease
Published in Clinical and Experimental Optometry, 2018
Monavvar Andarva, Javad Jamshidi, Hamid Ghaedi, Narsis Daftarian, Babak Emamalizadeh, Elham Alehabib, Shaghyegh Taghavi, Ramin Pouriran, Hossein Darvish
In 1961 Warburg described Norrie disease (ND; OMIM 310600) as a rare, X‐linked recessive disorder which causes very early childhood blindness. Degenerative and proliferative changes in the neuroretina of ND patients produces retrolental masses referred to as pseudogliomas, which consequently lead to blindness (no light perception [NLP]).1961 In affected males, other common features that appear in early childhood include mental retardation (~50 per cent of patients) and a progressive sensorineural hearing loss (at least 40 per cent).1975 Microphthalmia, growth failure and seizures are the other features which have been observed in some ND cases.1985 There are other ophthalmic problems in infancy including leukocoria, iris atrophy, retrolental fibroplasia, vitreous haemorrhage and retinal detachments. Currently, there is no successful therapy for ND patients.1961
Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report
Published in Ophthalmic Genetics, 2021
Subhi Talal Younes, James Mason Shiflett, Kristin Weaver, Andrew Smith, Betty Herrington, Charlotte Taylor, Kartik Reddy
Norrie disease is a genetic disorder characterized by mutations in the Wnt ligand Norrin, leading to failure of development of the retinal vasculature. Numerous extra-ocular manifestations of Norrie disease have been described; however, to our knowledge, no reports of intracranial masses exist. Here, we describe a patient with confirmed Norrie disease who presented with a choroid plexus lesion that spontaneously decreased in size over the course of 2 years. Given the lack of tissue examination in this patient, the precise diagnosis remains unknown.
A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease
Published in Ophthalmic Genetics, 2020
Meina Lin, Yongping Lu, Yu Sui, Xiang Ni, Huan Li, Xinren Chen, Ning Zhao, Miao Jiang
Norrie disease (ND, [OMIM #310600]) is a rare X-linked recessive disorder in affected males. The typical features are congenital blindness, progressive hearing impairment (1), and, in some cases, some degree of mental retardation, microphthalmia, microcornea, growth failure, and seizures (2). The early-onset blindness is due to deficient sprouting of the retinal vascular plexus during eye development, leading to pseudoglioma and retinal detachment as well as cataracts and bulbar atrophy in later stages of the disease (3).