Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.
J Hum Genet
; 65(5): 455-459, 2020 May.
Article
en En
| MEDLINE
| ID: mdl-32051522
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Portadoras
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Pruebas Genéticas
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Diagnóstico Preimplantación
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Enfermedades Renales Quísticas
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Hidrocefalia
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Proteínas de la Membrana
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Mutación
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article