Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly
| Autor: | Xiaoyu Zhan, Xingyu Bi, Yaoqin Wang, Junmei Fan, Yong Mao, Yuan Yuan, Zhiping Zhang, Suming Xu, Yanbing Cheng, Pengfei Zhu, Xueqing Wu, Huixia Bi, Lei Zhang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Genetic counseling Disease 030105 genetics & heredity Compound heterozygosity 03 medical and health sciences Cystic kidney disease Pregnancy Genetics medicine Humans Genetic Testing Preimplantation Diagnosis Genetics (clinical) Genetic testing medicine.diagnostic_test business.industry Membrane Proteins Kidney Diseases Cystic medicine.disease 030104 developmental biology Mutation Mutation (genetic algorithm) Female Carrier Proteins business Hydrocephalus Kidney disease Ventriculomegaly |
| Zdroj: | Journal of Human Genetics. 65:455-459 |
| ISSN: | 1435-232X 1434-5161 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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