Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients.
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PMID:Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 1863 29

Xeroderma pigmentosum (XP) is a rare genetic disorder caused by inherited disturbances in the nucleotide excision repair system; patients with XP groups A (XP-A), B, D, and G were shown to have progressive neurological disturbances. Particularly, XP-A patients, which account for approximately half of Japanese XP patients, show severe neurological disorders, including mental retardation and epilepsy. Herein, we performed an immunohistochemical analysis of the number of GABAergic interneurons (GABAis), including calbindin-D28K, parvalbumin, and calretinin, in the cerebral cortex and acetylcholinergic neurons (AchNs) in the nucleus basalis of Meynert (NM) and in the pedunculopontine tegmental nucleus (PPN) in six autopsy cases of XP-A in order to investigate the relationships between mental dysfunction and GABAis and AchNs. The density and percentages of neurons that were immunoreactive for calbindin-D28K and parvalbumin were significantly reduced in the frontal and temporal cortices in XP-A cases, although the density of neurons that were immunoreactive for MAP2 did not differ from that in controls. Additionally, XP-A cases showed reduced AchNs in both the NM and the PPN. The observed reductions of cortical GABAis and AchNs may be involved in the mental disturbances, the higher occurrence of epilepsy, and/or the abnormalities in rapid eye movement sleep in patients with XP-A.
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PMID:Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A. 2178 66

Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP-CS, with facial phenotype of CS, and CNS demyelination.
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PMID:Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association. 2275 38

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder characterized by sulfur-deficient brittle hair, growth and mental retardation, and ichthyosis. TTD is caused primarily by mutations in the xeroderma pigmentosum group D (XPD) gene, which encodes a subunit of the basal transcription factor IIH. We have identified a novel heterozygous mutation in XPD (c.1906C>T; p.R636W) resulting in mild-phenotype TTD in the proband and her mother. No identical variations were found in one hundred healthy Korean controls. In silico analysis suggested that the novel mutation was a causative mutation for TTD. This genotype-phenotype correlation provides a unique insight into the TTD inheritance pattern and could prove useful in the diagnosis of patients.
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PMID:Analysis of mutations in the XPD gene in a patient with brittle hair. 2388 29


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