Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary simple ectopia lentis affected nine patients in three generations of a family. Inheritance appeared to be autosomal dominant. Examination of 12 family members, employing body proportion measurements, chest x-ray, echocardiogram, and urinary cystine or blood methionine levels, revealed no evidence of any systemic disease. In all cases except two, lenses were bilaterally and superiorly dislocated. The degree of dislocation varied considerably among those affected, causing no visual disturbance in some and severely limiting visual acuity in others. Visual deficits were greatest in patients with intermediate degrees of dislocation. To date, the only known complications related to the dislocations have been two cases of bilateral cataracts. The indications for lensectomy in patients with ectopia lentis are reviewed.
J Pediatr Ophthalmol Strabismus
PMID:Familial simple ectopia lentis: a case study. 387

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 10 patients have been described with mutations in PRMT7. The shared findings include: hypotonia, intellectual disability, short stature, brachydactyly, and mild dysmorphic features. We describe the prenatal, postnatal, and pathological findings in two male sibs homozygote for a mutation in PRMT7. Both had intrauterine growth restriction involving mainly the long bones. In addition, eye tumor was found in the first patient, and nonspecific brain calcifications and a systemic venous anomaly in the second. The pregnancy of the first child was terminated and we describe the autopsy findings. The second child had postnatal growth restriction of prenatal onset, hypotonia, strabismus, sensorineural hearing loss, genitourinary and skeletal involvement, and global developmental delay. He had dysmorphic features that included frontal bossing, upslanting palpebral fissures, small nose with depressed nasal bridge, and pectus excavatum. Our patients provide additional clinical and pathological data and expand the phenotypic manifestations associated with PRMT7 homozygote/compound heterozygote mutations to include brain calcifications and delayed myelination, and congenital orbital tumor.
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PMID:Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations. 3051 35