Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Birth Defects Research. Part A, Clinical and Molecular Teratology
Robert SmigielHirotomo Saitsu

Abstract

A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular calcifications, and epilepsy. TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband. Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T [p.Gly708Val]). The mutation occurred at a highly conserved Gly residue in the Gly-X-Y repeat of the collagen triple helical domain, suggesting that these mutations may alter the collagen IV α1α1α2 heterotrimers. The mutation was predicted to be damaging. We suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors.

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Citations

Oct 31, 2016·Matrix Biology : Journal of the International Society for Matrix Biology·Marion Jeanne, Douglas B Gould
Nov 9, 2018·Frontiers in Psychology·Elliot Murphy, Antonio Benítez-Burraco
Aug 1, 2020·Journal of Medical Genetics·Toshiyuki ItaiNaomichi Matsumoto
Jul 23, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Domenico Umberto De RoseEugenio Maria Mercuri
Sep 22, 2021·Journal of Tropical Pediatrics·Vinícius Silva MonteiroMichele Souza Bastos

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