Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eighteen girls with Aicardi syndrome were identified through a survey of neurologists, geneticists, and ophthalmologists. All had infantile seizures, developmental delay, agenesis of the corpus callosum (complete: 72%, partial: 28%), and characteristic chorioretinal lacunar lesions. Costovertebral defects including hemivertebrae, scoliosis, and absent or malformed ribs were present in 39%, cortical heterotopias were present in 50%, and microphthalmia was identified in a third. Cytogenetic investigation was carried out in all families. An unbalanced X;3 translocation, 46,X,der(X)t(X;3)(p22.3;p23)mat, was discovered in a girl with chorioretinal lacunar lesions characteristic of Aicardi syndrome, developmental delay, and infantile seizures. However, this child had a normal appearing corpus callosum on CT and magnetic resonance imaging scans and therefore did not meet the criteria for inclusion in the study. Chromosomes of all other patients and parents were normal. Findings at birth, age of seizure onset, treatment, and prognosis are discussed. The pedigree data from these 18 families demonstrated an unaffected male:female sib ratio of 1:1.7 and a 14% spontaneous abortion rate. The findings of this study support the contention that Aicardi syndrome is an X-linked dominant disorder with early embryonic lethality in hemizygous males and that all cases represent new mutations.
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PMID:Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. 277 86

Gonadal dysgenesis and Mullerian agenesis both are common causes of primary amenorrhea. Coexistence of gonadal dysgenesis and Mullerian agenesis has been previously described as a rare event. The karyotypes, 45,XO,45,X/46,XX,45,X/46,X,dic(X),46,XX, and 46,XY, have been reported in the literature. A 22-year-old woman presented with primary amenorrhea and normal intelligence. Her physical examination confirmed the absence of breast development and axillary hair. The woman weighed 43 kg and was 150 cm tall. Scoliosis of the thoracic spine was noted on a chest X-ray film. Also, her pelvic examination revealed a vaginal introitus with a vaginal depth of 7 cm, measured by sounding. Her external genitalia were female but lacked pubic hair. The rectal examination failed to reveal a uterus. Pelvic ultrasound disclosed the absence of uterus and ovaries, and her serum gonadotropin levels were in the menopausal range (FSH, 118.59 IU/L; LH, 38.94 IU/L). Estradiol was less than 10 pg/ml. Two mosaic cell lines, 45,X (50%) and 46,X,del(X)(p22.2X50%), were found in the chromosomal study. Laparoscopic evaluation confirmed the absence of uterus and ovaries with normal fallopian tubes. Coexistence of gonadal dysgenesis and Mullerian agenesis is a rare event. The two mosaic cell lines 45,X/46,X,del(X)(p22.2) in this combination have not been reported before. In patients with this condition, estrogen will initiate and sustain maturation and function of secondary sexual characteristics, and lifelong hormone therapy will protect against osteoporosis and cardiovascular disease.
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PMID:Coexistence of gonadal dysgenesis and Mullerian agenesis with two mosaic cell lines 45,X/46,X,del(X)(p22.2). 1243 33

Herein we characterize an apparently balanced de novo translocation, t(X;15)(p22.2;q26.1)dn, in a female patient with scoliosis, hirsutism, learning problems, and developmental delay (DGAP025). Other clinical findings include a high-arched palate, 2-3 syndactyly of the toes, and mildly elevated serum testosterone. No known or predicted genes are disrupted by the Xp22.2 breakpoint. The 15q26.1 breakpoint disrupts chromodomain helicase DNA binding protein 2 (CHD2). Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis. Monosomy of 15q26 also has been associated with a spectrum of congenital abnormalities and growth retardation that overlaps with those of DGAP025. To provide a biological correlate, we characterized a mutant mouse model with Chd2 disruption that is associated with embryonic and perinatal lethality. Expression analysis indicated that Chd2 is expressed in the heart, forebrain, extremities, facial and dorsal regions during specific times of embryonic development. Chd2(+/m) mice showed pronounced lordokyphosis, reduced body fat, postnatal runting, and growth retardation. These data suggest that haploinsufficiency for CHD2 could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome.
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PMID:Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis. 1838 9