Details

Autor(en) / Beteiligte

• Theresia, Koenigbauer Josefine
• Wolfgang, Henrich
• Gundula, Girschick
• Michael, Entezami
• Alexander, Weichert
• Caroline, Gabrysch
• Laura, Fangmann
• Rabih, Chaoui
• Heinz‐Peter, Gabriel

Titel

Prenatal diagnosis of SMPD4 loss ‐ A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies

Ist Teil von

• Prenatal diagnosis, 2023-03, Vol.43 (3), p.284-287

Ort / Verlag

England: Wiley Subscription Services, Inc

Erscheinungsjahr

2023

Link zum Volltext

Quelle

Wiley-Blackwell subscription journals

Beschreibungen/Notizen

• 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. Key points What's already known about this topic? SMPD4 loss is a rare genetic disorder that leads to severe neurodevelopmental delay and early death in infancy and childhood Most affected children were diagnosed postnatally What does this study add? Signs of SMPD4 loss can be growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity)