Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient

Balakrishnan, Surya; Ranganath, Prajnya

doi:10.1097/mcd.0000000000000385

Cited by 2 publications

(3 citation statements)

References 6 publications

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“…Analyzing the clinical symptoms of 29 patients with Gabriele de Vries syndrome caused by YY1 gene mutation (Balakrishnan & Ranganath, 2021;Carminho-Rodrigues et al, 2020;Dos Santos et al, 2022;Khamirani et al, 2022;Koruga et al, 2023;Morales-Rosado et al, 2018;Tan et al, 2021), we discovered that craniofacial deformities were common in all patients. The most common feature is a broad forehead.…”

Section: Individual Id Sex Genotype Exonmentioning

confidence: 99%

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

Yang,

Yu,

Lyn

et al. 2023

Molec Gen & Gen Med

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BackgroundGabriele‐de Vries syndrome is a rare autosomal dominant genetic disease characterized by global development delay/intellectual disability, delayed language development, feeding difficulties, and distinctive facial dysmorphism. It is caused by pathogenic variants in YY1.MethodsThe current report describes a female patient with motor delay and a facial dysmorphism phenotype. We identified pathogenic mutations in the patient by whole‐exome sequencing and confirmed them by Sanger sequencing.ResultsA novel heterozygous frameshift mutation NM_003403.5:c.458_476del (p. V153fs*97) in the YY1 gene was detected in the proband. Finally, we provide a case‐based review of the clinical features associated with Gabriele‐de Vries syndrome. A total of 28 patients with genetic abnormalities and clinical phenotypes have been reported in the literature thus far.ConclusionsThe mutation site is reported for the first time, and its discovery would expand the mutation spectrum of the YY1 gene. The main clinical manifestations of Gabriele‐de Vries syndrome are developmental delay/intellectual disability, craniofacial dysplasia, intrauterine growth delay, low birth weight, feeding difficulties, and rare congenital malformations. Genetic tests are crucial techniques for its diagnosis because of its nonspecific clinical manifestations.

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Section: Individual Id Sex Genotype Exonmentioning

confidence: 99%

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

Yang,

Yu,

Lyn

et al. 2023

Molec Gen & Gen Med

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“…To date, more than 30 cases of GADEVS with an aberration of the YY1 gene have been reported in the literature. [2][3][4][5][6][7][9][10][11][12][13] Including our case (p.His377Arg), approximately 80% of these patients have loss-of-function mutations in the zinc fingers, 6 which is a DNA-binding domain of the YY1 gene (Figure 2). Missense mutations were the most common (63.3%), followed by frameshift mutations (26.7%), nonsense mutations (6.7%), and in-frame deletions (3.3%).…”

Section: Discussionmentioning

confidence: 87%

“…2,4 The prevalence of each clinical phenotype and characteristic facial feature is shown as a fraction of the total number of cases with available data (Figure 3a). [2][3][4][5][6][7][9][10][11][12][13] All patients reported to date showed various dysmorphic facial features; however, these could not be considered diagnosisspecific (Fig. 3b).…”

Section: Discussionmentioning

confidence: 99%

A rare epilepsy phenotype in Gabriele-de Vries syndrome: A new case and literature review

Woo,

Kim,

Kim

2023

NeuroAsia

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Gabriele-de Vries syndrome (GADEVS) is an extremely rare genetic syndrome characterized by mild-to-profound intellectual disability/developmental delay and a wide spectrum of clinical features. Herein, we report a case involving a rare early childhood epilepsy phenotype in a patient diagnosed with GADEVS based on the typical clinical features and the identification of a pathologic variant of the Yin Yang 1 (YY1) gene. A 3-year-old girl with global developmental delay, failure to thrive, and facial dysmorphism was referred to our rare genetic clinic. She also presented with cognitive impairment, hypotonia, hyperlaxity, strabismus, and autistic features. Whole genome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1130A>G; p.His377Arg) gene. Notably, she developed afebrile seizures with abnormal electroencephalogram in early childhood. Currently, she has been seizure-free for more than 2 years with valproic acid. This case expands the epilepsy phenotypic features of GADEVS and reviews the association between the loss-of-function of the YY1 gene and epileptogenesis and possible treatment options.

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Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient

Cited by 2 publications

References 6 publications

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

A rare epilepsy phenotype in Gabriele-de Vries syndrome: A new case and literature review

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