Abstract
Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a prenatal diagnosis of polycystic kidney disease are presented in this article. TMEM67 mutations were identified in both fetuses using a whole-exome sequencing (WES) study. In one of them, the phenotypic syndrome diagnosed prenatally was different from that diagnosed in the postnatal period.
Keywords:
Joubert syndrome; Meckel–Gruber syndrome; TMEM67 gene; genetic and phenotypic diagnosis; prenatal and postnatal diagnosis.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / genetics
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Cerebellum / abnormalities*
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Ciliary Motility Disorders / diagnosis*
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Ciliary Motility Disorders / genetics
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Diagnosis, Differential
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Encephalocele / diagnosis*
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Encephalocele / genetics
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Exome Sequencing / methods
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Eye Abnormalities / diagnosis*
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Eye Abnormalities / genetics
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Female
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Humans
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Kidney Diseases, Cystic / diagnosis*
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Kidney Diseases, Cystic / genetics
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism
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Mutation
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Polycystic Kidney Diseases / diagnosis*
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Polycystic Kidney Diseases / genetics
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Pregnancy
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Prenatal Diagnosis / methods
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Retina / abnormalities*
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Retinitis Pigmentosa / diagnosis*
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Retinitis Pigmentosa / genetics
Substances
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Membrane Proteins
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TMEM67 protein, human
Supplementary concepts
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Agenesis of Cerebellar Vermis
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Meckel syndrome type 1