Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis

Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis Publisher Pubmed

Aflatounian M¹ ; Smith H² ; Farahani F¹ ; Tofighi Naeem A¹ ; Straatmaniwanowska A² ; Zoghi S⁴ ; Khatri U² ; Tajdini P¹ ; Fallahi GH¹ ; Gissen P² ; Rezaei N^{3, 4, 5}

Show Affiliations

1. Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2. UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, United Kingdom
3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: European Journal of Medical Genetics Published:2016

Abstract

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis. Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis. © 2016 Elsevier Masson SAS.

Style	Citing Format
MLA	Aflatounian M, et al.. "Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis." European Journal of Medical Genetics, vol. 59, no. 4, 2016, pp. 237-239.
APA	Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatmaniwanowska A, Zoghi S, Khatri U, Tajdini P, Fallahi GH, Gissen P, Rezaei N (2016). Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis. European Journal of Medical Genetics, 59(4), 237-239.
Chicago	Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatmaniwanowska A, Zoghi S, Khatri U, et al.. "Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis." European Journal of Medical Genetics 59, no. 4 (2016): 237-239.
Harvard	Aflatounian M et al. (2016) 'Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis', European Journal of Medical Genetics, 59(4), pp. 237-239.
Vancouver	Aflatounian M, Smith H, Farahani F, Tofighi Naeem A, Straatmaniwanowska A, Zoghi S, et al.. Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis. European Journal of Medical Genetics. 2016;59(4):237-239.
BibTex	@article{ author = {Aflatounian M and Smith H and Farahani F and Tofighi Naeem A and Straatmaniwanowska A and Zoghi S and Khatri U and Tajdini P and Fallahi GH and Gissen P and Rezaei N}, title = {Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis}, journal = {European Journal of Medical Genetics}, volume = {59}, number = {4}, pages = {237-239}, year = {2016} }
RIS	TY - JOUR AU - Aflatounian M AU - Smith H AU - Farahani F AU - Tofighi Naeem A AU - Straatmaniwanowska A AU - Zoghi S AU - Khatri U AU - Tajdini P AU - Fallahi GH AU - Gissen P AU - Rezaei N TI - Novel Vipas39 Mutation in a Syndromic Patient With Arthrogryposis, Renal Tubular Dysfunction and Intrahepatic Cholestasis JO - European Journal of Medical Genetics VL - 59 IS - 4 SP - 237 EP - 239 PY - 2016 ER -

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