Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature

Zhu, Hui; Zhao, Zhihui; Zhu, Shu-yao; Xiong, Fu; He, Lihong; Zhang, Yong; Wang, Jin

doi:10.1186/s12887-022-03659-7

Cited by 1 publication

(1 citation statement)

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“…After informed consent was given, EDTA blood samples were obtained from the boy and his parents. WES was conducted and the methods have been described in detail in previous studies (12). PolyPhen-2, SIFT, Provean, Mutation Taster, and Mutation Assessor were used to predict whether the detected variant was damaging or causing disease.…”

Section: Case Presentationmentioning

confidence: 99%

Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review

Zhu,

Jiang

et al. 2023

Front. Neurol.

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Vulto-van Silfhout-de Vries syndrome (VSVS; MIM 615828) is an extremely rare autosomal dominant disorder with unknown incidence. It is always caused by de novo heterozygous pathogenic variants in the DEAF1 gene, which encodes deformed epidermal autoregulatory factor-1 homology. VSVS is characterized by mild to severe intellectual disability (ID) and/or global developmental delay (GDD), seriously limited language expression, behavioral abnormalities, somnipathy, and reduced pain sensitivity. In this study, we present a Chinese boy with moderate GDD and ID, severe expressive language impairment, behavioral issues, autism spectrum disorder (ASD), sleeping dysfunction, high pain threshold, generalized seizures, imbalanced gait, and recurrent respiratory infections as clinical features. A de novo heterozygous pathogenic missense variant was found in the 5th exon of DEAF1 gene, NM_021008.4 c.782G>C (p. Arg261Pro) variant by whole exome sequencing (WES). c.782G>C had not been previously reported in genomic databases and literature. According to the ACMG criteria, this missense variant was considered to be “Likely Pathogenic”. We diagnosed the boy with VSVS both genetically and clinically. At a follow-up of 2.1 years, his seizures were well controlled after valproic acid therapy. In addition, the child’s recurrent respiratory infections improved at 3.5 years of age, which has not been reported in previous individuals. Maybe the recurrent respiratory infections like sleep problems reported in the literature are not permanent but may improve naturally over time. The literature review showed that there were 35 individuals with 28 different de novo pathogenic variants of DEAF1-related VSVS. These variants were mostly missense and the clinical manifestations were similar to our patient. Our study expands the genotypic and phenotypic profiles of de novo DEAF1.

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Section: Case Presentationmentioning

confidence: 99%