Details

Autor(en) / Beteiligte

• Vanden Eynde, Nathalie
• Van den Mooter, Eve
• Vantroys, Elise
• De Schutter, Elke
• Leus, Astrid
• Keymolen, Kathelijn
• Dimitrov, Boyan
• van Berkel, Kim

Titel

Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus

Ist Teil von

• Prenatal diagnosis, 2024-05, Vol.44 (5), p.657-660

Ort / Verlag

England: Wiley Subscription Services, Inc

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• The fetal phenotype of MPDZ‐associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior. Combination of clinical features and a gene panel for congenital malformation syndromes detected a homozygous, likely pathogenic nonsense variant in the MPDZ gene. HYC2 is a rare autosomal recessive disorder with prenatal onset. Clinical presentation is highly variable, varying from stillbirth and severe neurodevelopmental problems with death in infancy to adult patients. Other reported associated congenital anomalies are mainly heart defects and ophthalmologic abnormalities. The present case so far is the first prenatally well described case of HYC2 in an ongoing pregnancy. Key point What is already known about this topic? MPDZ‐associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) is a rare autosomal recessive disorder with prenatal onset. Clinical presentation is highly variable, varying from stillbirth and severe neurodevelopmental problems with death in infancy to adult patients. What does this study add? The fetal phenotype of MPDZ‐associated HYC2 is not well described. This case so far is the first prenatally well described case of HYC2 in an ongoing pregnancy.