Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum

Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum Publisher Pubmed

Kameli R¹ ; Ashrafi MR¹ ; Ehya F² ; Alizadeh H³ ; Hosseinpour S¹ ; Garshasbi M⁴ ; Tavasoli AR¹

Show Affiliations

1. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
3. Department of Pediatrics, Division of Pediatric Radiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Source: European Journal of Medical Genetics Published:2020

Abstract

RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. RIN2 gene encodes the RAS and RAB interactor 2 and biallelic mutations in this gene cause cell trafficking dysfunction. Here we reported the eleventh patient of RIN2 syndrome in a 4 yr-old boy, from Tehran, Iran as the youngest reported patient so far. Whole exome sequencing revealed a novel frameshift homozygous variant of NM_001242581.1: c.2251dup; p.(Leu751Profs*9) in RIN2 gene. In addition to the previously reported symptoms for the RIN2 syndrome, white matter abnormalities in his brain MRI were noticed. Our findings expand the clinical spectrum of MACS syndrome due to mutation in RIN2 gene. © 2019 Elsevier Masson SAS

Style	Citing Format
MLA	Kameli R, et al.. "Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum." European Journal of Medical Genetics, vol. 63, no. 1, 2020, pp. -.
APA	Kameli R, Ashrafi MR, Ehya F, Alizadeh H, Hosseinpour S, Garshasbi M, Tavasoli AR (2020). Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum. European Journal of Medical Genetics, 63(1), -.
Chicago	Kameli R, Ashrafi MR, Ehya F, Alizadeh H, Hosseinpour S, Garshasbi M, Tavasoli AR. "Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum." European Journal of Medical Genetics 63, no. 1 (2020): -.
Harvard	Kameli R et al. (2020) 'Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum', European Journal of Medical Genetics, 63(1), pp. -.
Vancouver	Kameli R, Ashrafi MR, Ehya F, Alizadeh H, Hosseinpour S, Garshasbi M, et al.. Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum. European Journal of Medical Genetics. 2020;63(1):-.
BibTex	@article{ author = {Kameli R and Ashrafi MR and Ehya F and Alizadeh H and Hosseinpour S and Garshasbi M and Tavasoli AR}, title = {Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum}, journal = {European Journal of Medical Genetics}, volume = {63}, number = {1}, pages = {-}, year = {2020} }
RIS	TY - JOUR AU - Kameli R AU - Ashrafi MR AU - Ehya F AU - Alizadeh H AU - Hosseinpour S AU - Garshasbi M AU - Tavasoli AR TI - Leukoencephalopathy in Rin2 Syndrome: Novel Mutation and Expansion of Clinical Spectrum JO - European Journal of Medical Genetics VL - 63 IS - 1 SP - EP - PY - 2020 ER -

Science Communicator Platform

Authors

Authors Affiliations

Abstract