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)

A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.
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PMID:Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome. 56 68

Hypoglycemia of infancy and childhood represents a treatable cause of mental retardation and seizures. Most neonates with hypoglycemia have transient disorders, but with persistent hypoglycemia one must consider hyperinsulinism, hypopituitarism, or hereditary hepatic enzyme deficiencies. Outside of the neonatal period, ketotic hypoglycemia is the most common cause of hypoglycemia in childhood. One cannot overemphasize the value of obtaining certain diagnostic tests at the presentation of spontaneous hypoglycemia, including blood for insulin, cortisol, growth hormone, and urine for ketone bodies. Supportive treatment with intravenous glucose to maintain the blood glucose greater than 50 mg/dl is important until a diagnosis is established allowing specific therapy aimed at the underlying disorder.
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PMID:Hypoglycemia of infancy and childhood. 330 1

Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.
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PMID:[Cerebral and ocular abnormalities with anterior pituitary insufficiency of familial nature]. 392 Mar 52

A prepubertal boy with hypopituitarism, mental retardation, dysmorphia and solitary maxillary central incisor is described, karyotypic studies showed deletion of the short arm of chromosome 18 (46, XY, del (18) (p11). It is suggested that caryotypic studies is of interest among the patients with midline defects and/or hypopituitarism.
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PMID:[Solitary upper incisor, hypopituitarism and monosomy 18p chromosome aberration]. 665 63

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.
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PMID:X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. 910 38

The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and microcephaly. In addition to the characteristic facial features, associated conditions include congenital heart disease, exocrine/endocrine pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, sensorineural hearing loss and vesico-ureteral reflux. A case is presented and the potential anaesthetic implications of this syndrome are discussed.
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PMID:Perioperative care of the child with the Johanson-Blizzard syndrome. 1253 44

The pituitary develops from the interaction of the infundibulum, a region of the ventral diencephalon, and Rathke's pouch, a derivative of oral ectoderm. Postnatally, its secretory functions are controlled by hypothalamic neurons, which also derive from the ventral diencephalon. In humans, mutations affecting the X-linked transcription factor SOX3 are associated with hypopituitarism and mental retardation, but nothing is known of their etiology. We find that deletion of Sox3 in mice leads to defects of pituitary function and of specific central nervous system (CNS) midline structures. Cells in the ventral diencephalon, where Sox3 is usually highly expressed, have altered properties in mutant embryos, leading to abnormal development of Rathke's pouch, which does not express the gene. Pituitary and hypothalamic defects persist postnatally, and SOX3 may also function in a subset of hypothalamic neurons. This study shows how sensitive the pituitary is to subtle developmental defects and how one gene can act at several levels in the hypothalamic-pituitary axis.
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PMID:SOX3 is required during the formation of the hypothalamo-pituitary axis. 1498 18

Duplications involving the X chromosome, in which the duplicated region is not subject to inactivation, are rare. We describe four distal Xq duplications, in three males and one female, in which the duplicated X chromosomal material is active in all cells. The infantile phenotype bears some resemblance to that of the Prader-Willi syndrome, presenting with initial feeding difficulties, hypotonia and, sometimes, with cryptorchidism. However, the severity of the phenotype is not simply related to the size of the duplication and so variations in gene expression, gene disruption or position effects from breakpoints should be considered as explanations. We have compared the clinical, cytogenetic and molecular findings of our patients with those previously reported. This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR). We have also narrowed the putative critical interval for X-linked spina bifida.
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PMID:Functional disomy resulting from duplications of distal Xq in four unrelated patients. 1533 77

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficiency and variable learning difficulties. We report a submicroscopic duplication of Xq27.1, the smallest reported to date (685.6 kb), in two siblings with variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum. This duplication contains SOX3 and sequences corresponding to two transcripts of unknown function; only Sox3 is expressed in the infundibulum in mice. Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. This mutation led to reduced transcriptional activity, with impaired nuclear localization of the mutant protein. We also identified a novel polymorphism (A43T) in SOX3 in another child with hypopituitarism. In contrast to findings in previous studies, there was no evidence of MR or learning difficulties in our patients. We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.
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PMID:Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 1580 Aug 44

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. Growth hormone deficiency, hypopituitarism, and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however, normal intelligence can occur. In the pancreas, there is a selective defect of acinar tissue, whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children, suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features, in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
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PMID:Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. 1905 15


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