Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on 4 generations in a family with 3 living males, 3 males who died in infancy, and 3 females with neurologic impairment and agenesis of the corpus callosum (ACC). Manifestations in the surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered digits with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophris, optic atrophy, broad alveolar ridges and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. Two affected females were less severely impaired and continued to be socially responsive as adults, but had spastic quadriplegia and seizures. One obligate heterozygote was retarded with emotional problems while another obligate carrier female and her daughter were clinically normal. Pedigree analysis suggested X-linked inheritance with variable expression in females. These findings are inconsistent with the well-described X-linked conditions with ACC including FG syndrome and Aicairdi syndrome. ACC has not been described in Coffin-Lowry syndrome, a condition with similar clinical findings, which also demonstrates marked variability of expression in carrier females. In order to assist in carrier determination, brain imaging studies and DNA linkage analysis of the affected relatives was performed. We found a spectrum of agenesis of the corpus callosum with the most severe manifestations in the most severely affected males. DNA analysis using a series of X-linked probes suggests linkage with a LOD score of 1.26 at theta = 0 to a region between p 11.3 and p 21.3.
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PMID:New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. 846 65

Clinical and ultrastructural study of four cases of Coffin-Lowry syndrome (CLS), a heritable disorder with peculiar facies, stooped posture, vertebral changes, and mental retardation, is reported. Three of the four cases had myelopathy caused by calcification of the ligamenta flava in early adulthood. These patients demonstrated that CLS is a calcium pyrophosphate dihydrate crystal deposition disease, and it is postulated that a metabolic abnormality in collagen and in proteoglycans are responsible for some aspects of CLS.
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PMID:Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. 173 5

The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.
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PMID:Coffin-Lowry syndrome: a multicenter study. 306 51

The Coffin-Lowry is characterized by mental retardation, characteristic facies and hands, and skeletal changes. Discovery of two others brothers presenting vertebral curvature and suffering from the same syndrome led to a familial investigation which allowed the making of an inventory of six members affected in this family. Only subjects with characteristic fingers were included because according to Lowry this anomaly is necessary to assert the Coffin-Lowry syndrome. The series is quite interesting because this is the greatest of Lowry with five cases. The authors emphasize the importance of a detailed preoperative cardiac exploration to search for cardiomyopathy the existence of which in Coffin-Lowry syndrome was never noted before.
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PMID:[Fatal cardiac complications in a child operated on for severe scoliosis with a Coffin-Lowry syndrome. Apropos of a case]. 339 37

The familial occurrence of the Coffin-Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger- or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin-Lowry syndrome, is discussed.
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PMID:The Coffin-Siris syndrome: report of a family and further delineation. 649 51

Two adult, mentally retarded males with the typical features of the Coffin-Lowry syndrome are reported. Further family investigation led to the same diagnosis in a 2.5-year-old male cousin, and to the identification of five female carriers, with variable clinical expression of this X-linked inherited mental retardation syndrome.
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PMID:The Coffin-Lowry syndrome. A study of two new index patients and their families. 651 16

An epidemiological study was carried out on the group of moderately retarded brothers (IQ, 30-55) identified by Turner and Turner [1974]. Of the original 58 sets of brothers, 54 sets (now 17 to 32 years old) were traced; another four sets (missed in the earlier survey) were added. Forty-five of the 58 pairs were diagnosed as having nonspecific X-linked mental retardation (MR) giving an overall frequency of 5.57 moderately retarded males/10,000 male births. In 12 of the 45 families, affected males had the fragile(X) and macroorchidism; six had macroorchidism alone, giving a frequency of 2.8 moderately retarded males with X-linked MR and macroorchidism +/- the fragile(X) per 10,000 males. Corresponding heterozygote frequencies are 7.34 and 3.65/10,000 females respectively. A new subgrouping of nonspecific X-linked mental retardation is described in six families: X-linked MR, macroorchidism without the fragile(X). Three other X-linked conditions were identified: in one family, the Coffin-Lowry syndrome, in another, Duchenne muscular dystrophy, and in two families X-linked MR and muscle atrophy. Half (56%) of the obligatory carriers of fra(X)-MR in this study were dull to mildly retarded. The mildly retarded heterozygotes had a significantly higher percentage of fra(X) expressing lymphocytes as compared to the intellectually normal heterozygotes. When the three types of nonspecific X-linked MR for which population frequencies were calculated were considered together, half of the obligatory carriers (46%) were dull or mildly retarded, thus confirming that this condition is a significant cause of mild intellectual handicap in females.
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PMID:The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. 668 25

The Coffin-Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X-linked semi-dominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. We cannot confirm the metacarpal-phalangeal profile or fingertip dermatoglyphics as useful diagnostic aids. Skin biopsy studies from four of our patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.
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PMID:The Coffin-Lowry syndrome. Experience from four centres. 711 77

A gene responsible for a non-specific form of X-linked mental retardation (MRX19) was localised by linkage analysis. Exclusions and regional localisation were made using 21 highly informative PCR-based markers along the X chromosome. Significant lod scores at a recombination fraction of zero were detected with the marker loci DXS207, DXS987 (Zmax = 3.58) and DXS999 (Zmax = 3.28) indicating that this gene is localised to the proximal portion of Xp22. Recombination between MRX19 and the flanking loci KAL and DXS989 was observed. The multipoint CEPH background map, with map distances in cM, is DXS996-1.8-KAL-19.0-DXS207-0.9-[DXS987,DXS443 ]-4.3-DXS999-3.5-DXS365-14.0-DXS989. Two other MRX disorders and two syndromal mental retardations, Coffin-Lowry syndrome and Partington syndrome, have been mapped to this region. There is a possibility that the 3 MRX disorders are the same entity. Most MRX disorders remain clustered around the pericentromeric region.
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PMID:Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. 794 43

Coffin-Lowry syndrome (CLS; MIM 303600) in an uncommon X-linked disorder causing mental retardation and skeletal abnormalities. Most recently it was mapped to a 5.6-centimorgan (cM) region of Xp22, flanked distally by AFM291wf5 and proximally by DXS1052 [Biancalana et al., 1994: Genomics 22:617-625]. We present information which supports this localization and further narrows the region to approximately 3.4 cM. A recombination in a carrier from a British family mean that DXS365 is the closest proximal flanking marker identified to date for the region thought to contain the CLS gene. This information reduces the region of interest by approximately 2.2 cM, a significant decrease in terms of the scale of effort which will be required to isolate and analyze candidate genes.
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PMID:Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. 858 74


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