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)

The occurrence of congenital deafness, mutism and goitre unassociated with cretinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It has been estimated that 4-10 % of children with congenital deafness suffer from this condition. The perceptive hearing loss is considered to be present at birth although it is frequently not recognized for several years. The cause of the hearing defect is a congenital bilateral malformation of the cochlea of the Mondini type. The goitre is not recognized clinically at birth or in early childhood. It becomes apparent in the pre-pubertal years when it presents as a colloid enlargement progressing to a nodular goitre. The thyroid defect has been shown to be a partial defect in iodine organification leading to the underproduction of thyroxine and subsequent thyroid hyperplasia. The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre. Its autosomal mechanism gives an equal incidence in both sexes, unusual in thyroid disease. This article reviews the current aspects of pathogenesis and treatment of this syndrome and reports its occurrence in two Sudanese siblings.
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PMID:Goitre and deaf-mutism. 181 81

Congenital infection by human cytomegalovirus (CMV) is presently the leading infectious cause of mental retardation and congenital deafness in the United States. Live CMV vaccines in healthy adults have been shown to be safe and to induce immune responses similar to those that occur with natural CMV infection. Yet, only recently has a live CMV vaccine been tested for its protective ability. To evaluate the cost benefit and effectiveness of the proposed live CMV vaccine, we compared the following strategies: routine immunization, selective immunization of those women screened and found to be seronegative, and no immunization. Our results show that, when direct costs alone are considered, routine immunization of healthy women aged 15-25 years is cost beneficial even in populations with CMV seroprevalence as high as 87%. In populations with lower seroprevalence (55%-70%), for every 100,000 women immunized, more than 24 cases of symptomatic congenital CMV infection at birth and a similar number of cases with late sequelae (mainly deafness) would be prevented yearly. Such immunization would result in a net annual saving of $2.5 million.
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PMID:Effectiveness and cost benefit of a proposed live cytomegalovirus vaccine in the prevention of congenital disease. 215 28

An interstitial deletion of the proximal part of the long arm of the X chromosome was found in two brothers both suffering from choroideremia, congenital deafness and mental retardation. The mother was subsequently found to be heterozygous for the deletion, and to have the typical ophthalmological phenotype of a choroideremia carrier together with an elevated stapedial reflex threshold. Syndromes including choroideremia seem to be composed of characteristics which, independent of each other, occur as X-linked traits. Since this deletion covers part of the region Xq21.1-Xq21.31 it is postulated that besides the locus for choroideremia this region harbors a locus for X-linked congenital deafness and possibly a locus for X-linked mental retardation.
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PMID:Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. 343 52

Waardenburg syndrome (WS), the most common form of inherited congenital deafness, is a pleiotropic, autosomal dominant condition with variable penetrance and expressivity. WS is clinically and genetically heterogeneous. The basis for the phenotypic variability observed among and between WS families is unknown. However, mutations within the paired-box gene, PAX3, have been associated with a subset of WS patients. In this report we use cytogenetic and molecular genetic techniques to study a patient with WS type 3, a form of WS consisting of typical WS type 1 features plus mental retardation, microcephaly, and severe skeletal anomalies. Our results show that the WS3 patient has a de novo paternally derived deletion, del (2)(q35q36), that spans the genetic loci PAX3 and COL4A3. A molecular analysis of a chromosome 2 deletional mapping panel maps the PAX3 locus to 2q35 and suggests the locus order: centromere-(INHA, DES)-PAX3-COL4A3-(ALPI, CHRND)-telomere. Our analyses also show that a patient with a cleft palate and lip pits, but lacking diagnostic WS features, has a deletion, del (2)(q33q35), involving the PAX3 locus. This result suggests that not all PAX3 mutations are associated with a WS phenotype and that additional regional loci may modify or regulate the PAX3 locus and/or the development of a WS phenotype.
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PMID:Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. 810 4

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
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PMID:Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. 878 53

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.
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PMID:Johanson--blizzard syndrome. 1563 Mar 23

In Genetics Out-patient Department of Shanghai Children's Medical Center, we consulted a 3-year-old boy with multiple anomaly syndrome (congenital heart disease, cryptorchidism, congenital deafness, mental retardation, exophthalmos, laryngeal cartilage dysplasia and high arched palate). We ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs, and CHD7 is the only known gene associated with the syndrome. Sequencing analysis of CHD7 of the proband identified a de novo heterogeneous mutation (c.2916_2917del, p.Gln972HisfsX22), a two-nucleotide deletion causing reading frame shift and resulting in a truncated CHD7 protein. Computational structure analysis suggests that the truncated protein only contains the chromodomains of CHD7, but lacks the SWI2/SNF2-like ATPase/helicase domain and the DNA binding domain, which are indispensable for the proper function of the protein, especially on chromatin remodeling. The patient then received follow up treatment in different clinical departments in a long period. To our best knowledge, this is the first CHARGE syndrome in Chinese patients diagnosed by gene analysis. In summary, the clinical symptoms and the description of treatment in the present case, combined with genetic test and functional prediction of CHD7, are helpful for further understanding and genetic counseling of the CHARGE syndrome.
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PMID:A novel CHD7 mutation in a Chinese patient with CHARGE syndrome. 2560 31

Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.
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PMID:Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies. 2765 91