Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant

What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly.

Detalles Bibliográficos
Autores principales: Malinger, Gustavo, Haratz Krajden, Karina, Brinbaum, Roee, Tsur, Erez, Berger, Racheli, Shohat, Mordechai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545358/
https://www.ncbi.nlm.nih.gov/pubmed/35437818
http://dx.doi.org/10.1002/pd.6148
Descripción
Sumario:What's already known? Variants in CCND2 gene are known to cause syndromic macrocephaly. Recently inverse growth proximal variants were described in five individuals with microcephaly. What does this study add? CCND2 loss of function distal variants can cause fetal microcephaly.

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