Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
22
10
2019
accepted:
22
01
2020
revised:
10
01
2020
pubmed:
14
2
2020
medline:
18
12
2020
entrez:
14
2
2020
Statut:
ppublish
Résumé
Ventriculomegaly with cystic kidney disease (VMCKD) is a rare and severe disorder characterized by cerebral ventriculomegaly, greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels and kidney disease similar to Finnish congenital nephrosis. Recessive mutations in the CRB2 (NM_173689) gene have been shown to cause the syndrome. Here, we described a nonconsanguineous Chinese family with two fetuses affected with VMCKD. A novel compound heterozygous mutation was identified in the CRB2 gene with co-segregation. One mutation [c.1960G>C (p.A654P)] was inherited from the father, while another mutation [c.3078_c.3093delGGCGCGGCCCCGGCCC (p.L1026Lfs*110)] was inherited from the mother. Preimplantation genetic testing for monogenic disease (PGT-M) was performed for the carrier couple with full informed consent and successfully blocked the inheritance of the disease. Our study has important implications on molecular diagnosis and genetic counseling for VMCKD and extends the mutation spectrum in CRB2 gene.
Identifiants
pubmed: 32051522
doi: 10.1038/s10038-020-0731-0
pii: 10.1038/s10038-020-0731-0
doi:
Substances chimiques
CRB2 protein, human
0
Carrier Proteins
0
Membrane Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
455-459Références
Gosens I, den Hollander AI, Cremers FP, Roepman R. Composition and function of the Crumbs protein complex in the mammalian retina. Exp Eye Res. 2008;86:713–26.
doi: 10.1016/j.exer.2008.02.005
Ebarasi L, Ashraf S, Bierzynska A, Gee HY, McCarthy HJ, Lovric S, et al. Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet. 2015;96:153–61.
doi: 10.1016/j.ajhg.2014.11.014
van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, et al. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. Mol Vision 2005;11:263–73.
Slavotinek AM. The family of Crumbs genes and human disease. Mol Syndromol. 2016;7:274–81.
doi: 10.1159/000448109
Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, et al. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015;96:162–9.
doi: 10.1016/j.ajhg.2014.11.013
Jaron R, Rosenfeld N, Zahdeh F, Carmi S, Beni-Adani L, Doviner V, et al. Expanding the phenotype of CRB2 mutations—A new ciliopathy syndrome? Clin Genet 2016;90:540–4.
doi: 10.1111/cge.12764
Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, et al. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016;24:1436–44.
doi: 10.1038/ejhg.2016.24
van der Schoot V, Dondorp W, Dreesen J, Coonen E, Paulussen ADC, de Wert G, et al. Preimplantation genetic testing for more than one genetic conditgion: clinical and ethical considerations and dilemmas. Hum Reprod 2019;34:1146–54.
doi: 10.1093/humrep/dez059
Priner S, Altarescu G, Schonberger O, Holzer H, Rubinstein E, Dekel N, et al. The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome. J Assist Reprod Genet. 2019;36:159–64.
doi: 10.1007/s10815-018-1359-2
Zanetti BF, Braga D, Azevedo MC, Setti AS, Figueira RCS, Iaconelli A Jr., et al. Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience. JBRA Assist Reprod. 2019;23:99–105.
pubmed: 30614237
pmcid: 6501745
Yan L, Huang L, Xu L, Huang J, Ma F, Zhu X, et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc Natl Acad Sci USA. 2015;112:15964–9.
doi: 10.1073/pnas.1523297113
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
doi: 10.1038/gim.2015.30
Roy A, Kucukural A, Zhang Y. I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc 2010;5:725–38.
doi: 10.1038/nprot.2010.5
Capriotti E, Fariselli P, Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 2005;33:W306–10.
doi: 10.1093/nar/gki375
Pires DE, Ascher DB, Blundell TL. mCSM: predicting the effects of mutations in proteins using graph-based signatures. Bioinformatics. 2014;30:335–42.
doi: 10.1093/bioinformatics/btt691
Tepass U, Knust E. Crumbs and stardust act in a genetic pathway that controls the organization of epithelia in Drosophila melanogaster. Dev Biol 1993;159:311–26.
doi: 10.1006/dbio.1993.1243
Chen J, Huang X, Wang B, Zhang Y, Rongkavilit C, Zeng D, et al. Epidemiology of birth defects based on surveillance data from 2011–2015 in Guangxi, China: comparison across five major ethnic groups. BMC public health. 2018;18:1008.
doi: 10.1186/s12889-018-5947-y
Moyers S, Bailey LB. Fetal malformations and folate metabolism: review of recent evidence. Nutr Rev 2001;59:215–24.
doi: 10.1111/j.1753-4887.2001.tb07013.x
Vrettou C, Kakourou G, Mamas T, Traeger-Synodinos J. Prenatal and preimplantation diagnosis of hemoglobinopathies. Int J Lab Hematol. 2018;40:74–82.
doi: 10.1111/ijlh.12823
Pangalos C, Hagnefelt B, Lilakos K, Konialis C. First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. PeerJ 2016;4:e1955.
doi: 10.7717/peerj.1955