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Page 1
Renal, auricular, and ocular outcomes of Alport syndrome and their current management.
Zhang Y, Ding J. Zhang Y, et al. Pediatr Nephrol. 2018 Aug;33(8):1309-1316. doi: 10.1007/s00467-017-3784-3. Epub 2017 Sep 1. Pediatr Nephrol. 2018. PMID: 28864840
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal rec …
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the …
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M. Savige J, et al. PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016. PLoS One. 2016. PMID: 27627812 Free PMC article.
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic labora …
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined …
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C, Alkon-Meadows T, Lee J, Cacchione T, Iyune-Cojab E, Garza-Galvan M, Luna-Rojas M, Copperman AB, Sandler B. Hernandez-Nieto C, et al. Prenat Diagn. 2020 Apr;40(5):635-643. doi: 10.1002/pd.5656. Epub 2020 Feb 27. Prenat Diagn. 2020. PMID: 32003480
Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 participating couples (4.34%) were identified as being at-risk couples. The most prevalent alleles found were associated with alpha tha …
Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 pa …
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expressed gene of the three PRS genes, are compatible with life. Mutations described thus far in PRPS1 are all missense mutations that res …
With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expre …
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-li …
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearin …
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
Jang JH, Oh J, Han JH, Park HR, Kim BJ, Lee S, Kim MY, Lee S, Oh DY, Choung YH, Choi BY. Jang JH, et al. Genet Test Mol Biomarkers. 2019 Jun;23(6):423-427. doi: 10.1089/gtmb.2018.0296. Epub 2019 May 7. Genet Test Mol Biomarkers. 2019. PMID: 31063410
Materials and Methods: Two consecutively recruited hearing-impaired probands with seemingly nonsyndromic features and their biological mothers were included in this study. ...This finding is compatible with the previously proposed tendency for a high de novo rate of large …
Materials and Methods: Two consecutively recruited hearing-impaired probands with seemingly nonsyndromic features and their biologica …
Treatment of ear and bone disease in the Phex mouse mutant with dietary supplementation.
Wick CC, Lin SJ, Yu H, Megerian CA, Zheng QY. Wick CC, et al. Am J Otolaryngol. 2017 Jan-Feb;38(1):44-51. doi: 10.1016/j.amjoto.2016.09.014. Epub 2016 Sep 28. Am J Otolaryngol. 2017. PMID: 27733274 Free PMC article.
HYPOTHESIS: Phosphorus and vitamin D (calcitriol) supplementation in the Phex mouse, a murine model for endolymphatic hydrops (ELH), will improve otic capsule mineralization and secondarily ameliorate the postnatal development of ELH and sensorineural hearing loss ( …
HYPOTHESIS: Phosphorus and vitamin D (calcitriol) supplementation in the Phex mouse, a murine model for endolymphatic hydrops (ELH), will im …
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
Choi JW, Min B, Kim A, Koo JW, Kim CS, Park WY, Chung J, Kim V, Ryu YJ, Kim SH, Chang SO, Oh SH, Choi BY. Choi JW, et al. Otol Neurotol. 2015 Jan;36(1):184-90. doi: 10.1097/MAO.0000000000000343. Otol Neurotol. 2015. PMID: 24608376
MAIN OUTCOME MEASURE: Mutation type and occurrence. RESULTS: We identified IP type III in 10 (4.8%) of 206 patients with an inner ear abnormality. We confirmed an etiologic homogeneity, DFNX2, of the IP type III in this Korean population. ...PCR confirmed that the 2 deleti …
MAIN OUTCOME MEASURE: Mutation type and occurrence. RESULTS: We identified IP type III in 10 (4.8%) of 206 patients with an inner ear …