Translational pediatrics · 2025
A de novo microdeletion of 3q27.1-3q27.2 causing fetal growth retardation: a case report and literature review.
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Lin Chuyang, Jiang Mingyan, Pan Zhen, Wu Jinlin, Li Jinrong
Аннотация
BACKGROUND: Chromosomal microdeletions in the 3q26-3q28 region are rare and often associated with fetal growth restriction (FGR), microcephaly, and dysmorphic features. However, the precise genetic mechanisms and phenotypic spectrum remain incompletely understood. This study reports a novel de novo 3q27.1-3q27.2 microdeletion and refines the critical region for this syndrome.
CASE DESCRIPTION: Here we report a 10-month-old girl with FGR and postnatal growth retardation. Molecular cytogenetic investigation [chromosomal single nucleotide polymorphism (SNP) microarray analysis] identified a de novo interstitial 1.56 Mb microdeletion of 3q27.1-3q27.2. The clinical and molecular findings in this patient were compared with the previous literature on cases with overlapping interstitial 3q-deletions. We identified the smallest region of overlap (SRO) carried on chromosome 3q27.1 as the critical region associated with this microdeletion syndrome, where dishevelled segment polarity protein 3 (DVL3) and adaptor related protein complex 2 subunit Mu 1 (AP2M1) may be associated with FGR.
CONCLUSIONS: This study identifies DVL3 and AP2M1 as likely contributors to FGR in 3q27.1-3q27.2 microdeletion syndrome and expands the phenotypic spectrum to include hepatic involvement. The findings underscore the importance of early genetic testing in FGR cases and provide insights for future research on genotype-phenotype correlations. Functional studies are needed to validate the roles of these genes in growth and development.
CASE DESCRIPTION: Here we report a 10-month-old girl with FGR and postnatal growth retardation. Molecular cytogenetic investigation [chromosomal single nucleotide polymorphism (SNP) microarray analysis] identified a de novo interstitial 1.56 Mb microdeletion of 3q27.1-3q27.2. The clinical and molecular findings in this patient were compared with the previous literature on cases with overlapping interstitial 3q-deletions. We identified the smallest region of overlap (SRO) carried on chromosome 3q27.1 as the critical region associated with this microdeletion syndrome, where dishevelled segment polarity protein 3 (DVL3) and adaptor related protein complex 2 subunit Mu 1 (AP2M1) may be associated with FGR.
CONCLUSIONS: This study identifies DVL3 and AP2M1 as likely contributors to FGR in 3q27.1-3q27.2 microdeletion syndrome and expands the phenotypic spectrum to include hepatic involvement. The findings underscore the importance of early genetic testing in FGR cases and provide insights for future research on genotype-phenotype correlations. Functional studies are needed to validate the roles of these genes in growth and development.