Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.
CNS malformation
KIDINS220
heterozygous
neurosonogram
prenatal ultrasound
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
04 Oct 2024
04 Oct 2024
Historique:
revised:
23
09
2024
received:
26
06
2024
accepted:
25
09
2024
medline:
5
10
2024
pubmed:
5
10
2024
entrez:
5
10
2024
Statut:
aheadofprint
Résumé
Following termination of pregnancy due to multiple brain malformations, a non-consanguineous couple of Jewish descent sought genetic counseling. Brain malformations identified on neurosonogram included corpus callosum dysgenesis, abnormal brain stem morphology, abnormal cortical sulcation and hypertelorism. Trio exome sequencing revealed a heterozygous de novo likely pathogenic variant in KIDINS220 gene. Heterozygous variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO). Reports on prenatal findings are limited and primarily consist of cases of ventriculomegaly. We describe a more severe clinical presentation in a case with a heterozygous variant.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
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D. J. Josifova, G. R. Monroe, F. Tessadori, et al., “Heterozygous KIDINS220/ARMS Nonsense Variants Cause Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity,” Human Molecular Genetics 25, no. 11 (2016): 2158–2167, https://doi.org/10.1093/hmg/ddw082.
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J. Zhang, Y. Zhang, Q. Shang, et al., “Gain‐of‐Function KIDINS220 Variants Disrupt Neuronal Development and Cause Cerebral Palsy,” Movement Disorders 39, no. 3 (2024): 498–509, https://doi.org/10.1002/mds.29694.
I. L. Mero, H. H. Mørk, Y. Sheng, et al., “Homozygous KIDINS220 Loss‐of‐Function Variants in Fetuses With Cerebral Ventriculomegaly and Limb Contractures,” Human Molecular Genetics 26, no. 19 (2017): 3792–3796, https://doi.org/10.1093/hmg/ddx263.
S. H. El‐Dessouky, M. Y. Issa, M. M. Aboulghar, et al., “Prenatal Delineation of a Distinct Lethal Fetal Syndrome Caused by a Homozygous Truncating KIDINS220 Variant,” American Journal of Medical Genetics 182, no. 12 (2020): 2867–2876, https://doi.org/10.1002/ajmg.a.61858.