Artigos Científicos
Two Prenatal cases with a variant of loss in homozygosity involving the CRPPA (ISPD) g...
30 agosto 2021
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Two Prenatal cases with a variant of loss in homozygosity involving the CRPPA (ISPD) gene
C. Ventura1, R. Lemos1, P. Costa1, M. Teixeira1, J. Sá1, G. Soares1, M. Mistrík2, Rita Cerqueira1
Introduction
Homozygous mutations of the CRPPA gene [MIM 614631] are associated with Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A7) described by OMIM [MIM 614643]. Clinical features include hydrocephalus, microphtalmia and weak fetal movements.
This disorder is the cause of the most severe phenotype of Walker-Warburg syndrome.
The cases presented reinforce the importance of using the Microarray Chromosomal Analysis (aCGH) as a first-line diagnostic test in fetuses with one or more structural ultrasound anomalies. They also allow to demonstrate how an heterozygous common variant in the population, when in homozygosity confers an unfavorable prognosis for the fetus.
