<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, <italic>de novo</italic> pathogenic variant in <italic>ZIC2</italic> - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition.</p>
</abstract>

Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition.

Semilobar Holoprosencephaly Caused by a Novel and De Novo <italic>ZIC2</italic> Pathogenic Variant

University Children’s Hospital in Skopje

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Semilobar Holoprosencephaly Caused by a Novel and De Novo  Pathogenic Variant

Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two...

GENE	VARIANT	ZYGOSITY	VARIANT CLASSIFICATION
ZIC2	c.818G>A (p.Cys273Tyr)	heterozygous	Likely Pathogenic
ZIC2	c.1439C>T (p.Ser480Leu)	heterozygous	Uncertain Significance
CTNNB1	c.1657A>G (p.Met553Val)	heterozygous	Uncertain Significance
PCLO	c.5293C>T (p.Pro1765Ser)	heterozygous	Uncertain Significance
PEX5	c.1814G>A (p.Ser605Asn)	heterozygous	Uncertain Significance
PTPN23	c.1603C>G (p.Gin535Glu)	heterozygous	Uncertain Significance

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant

Article Category: CASE REPORT

Online veröffentlicht: 02. Mai 2023

Seitenbereich: 71 - 76

DOI: https://doi.org/10.2478/bjmg-2022-0017

Schlüsselwörter
holoprosencephaly, HPE, forebrain anomaly

© 2022 Nonkulovski D et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Figure 2.

Figure 3.

Figure 4.

j.bjmg-2022-0017.tab.001

Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant

Article Category: CASE REPORT

Online veröffentlicht: 02. Mai 2023

Seitenbereich: 71 - 76

DOI: https://doi.org/10.2478/bjmg-2022-0017

Schlüsselwörterholoprosencephaly, HPE, forebrain anomaly

© 2022 Nonkulovski D et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Figure 2.

Figure 3.

Figure 4.

j.bjmg-2022-0017.tab.001

Schlüsselwörter
holoprosencephaly, HPE, forebrain anomaly