Robinow syndrome caused by the DVL1 gene mutation: a case report and literature review
10.3760/cma.j.cn101070-20240223-00108
- VernacularTitle:DVL1基因突变致Robinow综合征1例并文献复习
- Author:
Sijie CHENG
1
;
Qiaoli ZHOU
;
Wei GU
Author Information
1. 南京医科大学附属儿童医院内分泌遗传代谢科，南京 210008
- Keywords:
Robinow syndrome;
DVL1 gene mutation;
Review
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(11):862-865
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data, diagnosis and treatment of a child with Robinow syndrome (RS) caused by the DVL1 gene mutation, who was treated in the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Nanjing Medical University in May 2023, were retrospectively analyzed.The male child, 2 years old, presented with 2 years of external genital abnormality.The main clinical features included intrauterine growth retardation, external genital abnormalities, craniofacial anomalies, skeletal malformations and congenital heart diseases.Whole exome sequencing revealed that the patient carried a heterozygous mutation c. 1529delG(p.G510Vfs*139) in exon 14 of the DVL1 gene.Cases of the DVL1 gene mutation have not been documented in Chinese.A review of literature identified 25 (including the case in this report) cases of RS in children attributed to DVL1 gene mutations, revealing common clinical features such as craniofacial anomalies, skeletal malformations, external genital abnormalities, heart diseases, short stature, and hearing impairments.Cognitive abilities are typically unaffected, and reproductive function remains normal.Notably, 19 identified DVL1 gene mutations are clustered within a specific genomic region (c.1496-c.1631), with no discernible genotype-phenotype correlation observed.
