Yunis Varon syndrome

Kulkarni, M. L.; Vani, H. N.; Nagendra, Kanchana; Mahesh, T K; Kumar, Anand; Haneef, Suja; Z, Mohammed; Kulkarni, Preethi M.

doi:10.1007/bf02825832

Cited by 9 publications

(8 citation statements)

References 11 publications

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“…In contrast, patients with CMT4J and polymicrogyria retain partial function of FIG4. 22,23 Interestingly, Walch et al 22 noted that in one patient with YVS, the areas of neuronal vacuolization did not overlap with areas exhibiting pachygyria and polymicrogyria, indicating that the process of neurodegeneration might mask preceding cortical abnormalities. Spongiform neurodegeneration is only seen with complete loss of FIG4 function in the plt mouse and patients with YVS.…”

Section: Discussionmentioning

confidence: 99%

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

et al. 2014

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Section: Discussionmentioning

confidence: 99%

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

et al. 2014

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“…Severe neurological impairments involving intraneuronal inclusions and vacuolar degeneration are seen in YVS compared with CCD which has defects prominently in the bone and teeth 22. YVS is caused by the mutation in the FIG4 gene whereas CCD is due to the defect in the RUNX2 gene which is essential for intramembranous and endochondral bone formation 21 23…”

Section: Differential Diagnosismentioning

confidence: 99%

Clinical and radiological findings in a severe case of cleidocranial dysplasia

2018

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Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.

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“…1 Since then, approximately 25 individuals with Yunis-Varó n syndrome (YVS) (MIM 216340) have been described. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] Frequent features include structural brain abnormalities, sparse and pale hair, and facial dysmorphisms. Skeletal abnormalities include wide fontanelles with calvarial dysostosis, aplasia or hypoplasia of the clavicles and phalanges in the hands and feet, and absence of thumbs and halluces.…”

mentioning

confidence: 99%

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Campeau

Lenk

et al. 2013

The American Journal of Human Genetics

128

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Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarged vacuoles in neurons. We demonstrate that Fig4-null mice also have small skeletons with reduced trabecular bone volume and cortical thickness and that cultured osteoblasts accumulate large vacuoles. Our findings demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most severe known human phenotype caused by defective phosphoinositide metabolism. In contrast, in Charcot-Marie-Tooth disease type 4J (also caused by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. This genotype-phenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal anomalies. Our results describe a role for PI(3,5)P(2) signaling in skeletal development and maintenance.

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Yunis Varon syndrome

Cited by 9 publications

References 11 publications

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Clinical and radiological findings in a severe case of cleidocranial dysplasia

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

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