Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly,arthrogryposis and structural brain anomalies |
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| Authors: | Koenigbauer Josefine Theresia Henrich Wolfgang Girschick Gundula Entezami Michael Weichert Alexander Gabrysch Caroline Fangmann Laura Chaoui Rabih Gabriel Heinz-Peter |
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| Institution: | 1. Department of Obstetrics, Charité University Hospital, Berlin, Germany;2. Prenatal Diagnosis Bergmannstrasse, Berlin, Germany;3. Zentrum für Pränataldiagnostik und Humangenetik, Berlin, Germany;4. Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany;5. Center for Human Genetics, Tuebingen, Germany |
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| Abstract: | SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene. |
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