Theresia Koenigbauer Josefine, Wolfgang Henrich, Gundula Girschick, Michael Entezami, Alexander Weichert, Caroline Gabrysch, Laura Fangmann, Rabih Chaoui, Heinz-Peter Gabriel
Department of Obstetrics, Charité University Hospital, Berlin, Germany.
Prenatal Diagnosis Bergmannstrasse, Berlin, Germany.
Prenat Diagn. 2023 Mar;43(3):284-287. doi: 10.1002/pd.6324. Epub 2023 Feb 7.
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.
鞘磷脂磷酸二酯酶4（SMPD4）缺失是一种罕见的神经发育障碍，可导致严重的智力和身体残疾，并在婴儿期早期死亡。这种遗传疾病的大多数病例是在出生后诊断出来的。本文重点关注受影响胎儿的产前检查结果。其表型可包括生长受限、关节挛缩（握拳、足部畸形）以及脑部异常（脑回模式简化/无脑回畸形、小脑发育不全、胼胝体畸形）。通过外显子组测序可检测到SMPD4缺失。在此，两名胎儿在编码鞘磷脂酶-4的SMPD4基因中显示出纯合致病变体。父母双方均为该致病变体的杂合携带者。一旦检测到上述体征，就应进行外显子组测序，重点关注SMPD4基因。
