UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

English Journal

Zhang L1,2, Lai YH1,3, Capasso JE1, Han S4, Levin AV1,5.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Jun;167(6):1365-8. doi: 10.1002/ajmg.a.37035. Epub 2015 Apr 21.
Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6-year-old boy with bilateral superior-temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent cri
PMID 25900864

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Stange K1, Ott CE2, Schmidt-von Kegler M3, Gillesen-Kaesbach G4, Mundlos S5, Dathe K6, Seemann P1.
Journal of human genetics.J Hum Genet.2015 May 21. doi: 10.1038/jhg.2015.48. [Epub ahead of print]
We report on a Brachydactyly Type C (BDC) patient with clinically inconspicuous parents. Molecular genetic analyses revealed compound heterozygosity for two GDF5 variants. The variant c.956G>T (p.Gly319Val) was inherited from her mother and has been reported in exome sequencing projects, whereas
PMID 25994865

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

Siemiatkowska AM1, Schuurs-Hoeijmakers JH1, Bosch DG2, Boonstra FN3, Riemslag FC4, Ruiter M5, de Vries BB6, den Hollander AI7, Collin RW1, Cremers FP1.
JAMA ophthalmology.JAMA Ophthalmol.2014 Aug;132(8):1002-4. doi: 10.1001/jamaophthalmol.2014.983.
IMPORTANCE: The NMNAT1 gene was recently found to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy. The most prevalent NMNAT1 variant was p.Glu257Lys, which was observed in 38 of 106 alleles (35.8%). On the basis of functional assays, it was deemed a severe vari
PMID 24830548