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Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nakashima M, et al. J Hum Genet. 2014 Aug;59(8):471-4. doi: 10.1038/jhg.2014.51. Epub 2014 Jun 26. J Hum Genet. 2014. PMID: 24965255
PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, and Usher syndrome type 1F, respectively. Our patient showed neurological features similar to reported cases of …
PNKP and PCDH15 mutations have been reported in autosomal recessive microcephaly with early-onset seizures and developmental delay syndrome, …
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom C, Macarov M, Lazer-Derbeko G, Altarescu G, Imbar T, Hyman JH, Eldar-Geva T, Blumenfeld A. Yahalom C, et al. Ophthalmic Genet. 2018 Aug;39(4):450-456. doi: 10.1080/13816810.2018.1474368. Epub 2018 May 21. Ophthalmic Genet. 2018. PMID: 29781739
RESULTS: Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 famili …
RESULTS: Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (1 …
Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF. Le Guédard S, et al. Mol Vis. 2007 Jan 26;13:102-7. Mol Vis. 2007. PMID: 17277737 Free PMC article.
PURPOSE: Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher syndrome type 1F (USH1F). When PCDH15 was systematically analyzed for mutations in a cohort of USH1 patients, a numb …
PURPOSE: Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines Usher …