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

Four cases of multiple nevoid basal cell carcinoma syndrome are presented. No one component of the syndrome is present in all patients; instead, the many malformations associated with the syndrome have variable expressivity. The triad of jaw cysts, basal cell epitheliomas, and skeletal anomalies is well known, whereas other aspects, such as intracranial calcifications, hypertelorism, mental retardation, ectopic calcification, cleft lip and palate, cutaneous cysts, and palmar and plantar dyskeratosis, are more subtle and easily overlooked.
 ...
PMID:Variable expressivity of the multiple nevoid basal cell carcinoma syndrome. 695 73

Four patients affected with the nevoid basal cell carcinoma syndrome and recurrent seizures are described and the pertinent literature is reviewed. Three of the patients had multiple basal cell carcinomas and cutaneous nevi, dentigerous cysts, and skeletal anomalies characteristic of the syndrome. The seizures had their onset in childhood and were generalized tonic-clonic in three patients and both tonic-clonic and complex partial in the fourth. Focal neurological deficits were found in only one patient. Pneumoencephalography in two patients and head CT scan in a third were negative. Electroencephalography showed focal spike discharges in one patient, bilateral anterior paroxysmal slowing in another, and nonspecific shifting temporal theta transients in the other two cases. Psychometric testing yielded full-scale scores ranging from 39 to 84. In addition to mental retardation, congenital communicating hydrocephalus, and medulloblastoma, seizures should be included among the neurological manifestations of the nevoid basal cell carcinoma syndrome.
 ...
PMID:Nevoid basal cell carcinoma syndrome and epilepsy. 710 17

Gorlin syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, medulloblastomas, ovarian fibromas, and a variety of developmental defects. All affected individuals share certain key features, but there is significant phenotypic variability within and among kindreds with respect to malformations. The gene (NBCCS) maps to chromosome 9q22, and allelic loss at this location is common in tumors from Gorlin syndrome patients. Two recessive cancer-predisposition syndromes, xeroderma pigmentosum group A (XPAC) and Fanconi anemia group C (FACC), map to the NBCCS region; and unusual, dominant mutations in these genes have been proposed as the cause of Gorlin syndrome. This study presents cytogenetic and molecular characterization of germ-line deletions in one patient with a chromosome 9q22 deletion and in a second patient with a deletion of 9q22-q3l. Both have typical features of Gorlin syndrome plus additional findings, including mental retardation, conductive hearing loss, and failure to thrive. That Gorlin syndrome can be caused by null mutations (deletions) rather than by activating mutations has several implications. First, in conjunction with previous analyses of allelic loss in tumors, this study provides evidence that associated neoplasms arise with homozygous inactivation of the gene. In addition, dominant mutations of the XPAC and FACC1 genes can be ruled out as the cause of Gorlin syndrome, since the two patients described have null mutations. Finally, phenotypic features that show variable expression must be influenced by genetic background, epigenetic effects, somatic mutations, or environmental factors, since these two patients with identical alterations (deletions) of the Gorlin syndrome gene have somewhat different manifestations of Gorlin syndrome.
 ...
PMID:Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. 875 29

Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by multiple basal cell carcinomas, skeletal abnormalities and sometimes mental retardation. The large number of tumors, which are often disfiguring, presents extreme difficulties in the treatment of these patients. Microscopically controlled excision, compared to other modalities (radiation therapy, photodynamic therapy, intralesional interferon alpha-2b) offers the highest cure rate. However, because of the large size and involvement of wide areas of the skin, this approach is sometimes impractical. The ultrapulse CO2 laser with high energy and short pulses achieves char-free ablation of the tumors, bloodless surgical field, minimal nonspecific thermal damage, rapid healing and diminished postoperative pain. Also, a number of lesions can be removed in a single session. We present a 48-year-old man with a 6.5 x 4.5 cm large basal cell carcinoma involving the anterior abdomen and navel area. The central thick portion of the tumor was resected by microscopically controlled excision with 3 stages, and wide thinner peripheral crescentic plaque vaporized with ultrapulse CO2 laser. The laser settings were 300 mJ energy/pulse and 100 W average power, which corresponds to the fluence of 7.5 J/cm2. Computerized pattern generator (ultrascan handpiece) was adjusted to patterns of 3 (circle) and 1 (square) with sizes varying from 5 to 7, and density of 9 (60% overlapping). The tumor was vaporized with 6 passes, all the way to deep reticular dermis. A fifteen month-follow up disclosed no recurrent disease. Subsequent biopsies revealed only a scar with postinflammatory hyperpigmentation. Our experience indicates that combined treatment with microscopically controlled excision and ultrapulse CO2 laser ablation is a suitable modality for the large tumor plaques involving concave and convex areas of the skin respectively. Microscopically controlled excision of thicker, concave portions of basal cell carcinoma plaques, where CO2 laser surgery is less feasible, presents an effective addition that renders this combined modality a successful method for the treatment of nevoid basal cell carcinoma syndrome.
 ...
PMID:Microscopically controlled surgical excision combined with ultrapulse CO2 vaporization in the management of a patient with the nevoid basal cell carcinoma syndrome. 951 2

The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae. It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. Both patients had severe deafness and congenital labyrinthine anomalies, which have not previously been described as features of this syndrome. The neuromotor and mental development of these patients was adversely affected by late diagnosis, deafness, and their sociocultural environment, but their cognitive ability fell within the range observed in other Meier-Gorlin patients. Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies.
 ...
PMID:The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. 1021 48

We reported a boy with nevoid basal cell carcinoma syndrome (NBCCS) with chromosomal aberration. He showed multiple jaw cysts, basal cell carcinomas, hypertelorism, macrocephaly and mental retardation. Cranial CT revealed calcification of the falx cerebri and tentorium cerebelli, and dilatation of the lateral ventricles. MRI showed a thin corpus callosum. A chromosomal study revealed a deletion of 9q21.31-q22.31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS.
 ...
PMID:[A nevoid basal cell carcinoma syndrome with chromosomal aberration]. 1065 52

The underlying genetic cause of mental retardation (MR) remains unknown in about half of the cases. Recently, using whole genome array comparative genomic hybridization (array-CGH), submicroscopic genetic imbalances have been detected in up to 20% of patients with an unexplained MR, dysmorphic features, and apparently normal karyotype. Here, we present a 12-year-old girl with features of basal cell nevus syndrome (BCNS), pulmonary valve stenosis, and MR, in whom array-CGH identified a 7.7 Mb deletion on 9q22.1-q22.32. The deleted region includes, among others, the ROR2 and PTCH genes. Haploinsufficiency of PTCH causes the BCNS syndrome and mutations in ROR2 have been found in an autosomal recessive Robinow syndrome and a dominantly inherited brachydactyly type 1B. We speculate that haploinsufficiency of ROR2 may contribute to pulmonary valve stenosis. Because of an age-dependent penetrance, BCNS may be challenging for diagnosis particularly when the features are not part of a typical clinical spectrum of BCNS. Early diagnosis of BCNS is important for preventing the development of associated tumors and better care of the patient. Our data confirm the previous observations that application of the whole genome array-CGH should be considered in selected patients with undiagnosed MR and dysmorphic features.
 ...
PMID:A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 1763 81

Neurologic involvement in nevoid basal-cell carcinoma syndrome includes intracranial calcification, congenital hydrocephalus, intracranial neoplasms, and mental retardation. A few cases of epilepsy with nevoid basal-cell carcinoma syndrome were reported. We report on a patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene. This mutation causes a shift of the reading frame, and creates a stop codon predicting the truncation of the PTCH protein. This mutation was not found in previously described patients with nevoid basal-cell carcinoma syndrome.
 ...
PMID:New mutation of the PTCH gene in nevoid basal-cell carcinoma syndrome with West syndrome. 1795 Apr 24

A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral extracutaneous defects include cervical ribs, polydactyly, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and optic glioma. The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated.
 ...
PMID:Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. 1870 10