Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3

Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3 Publisher Pubmed

Kariminejad A¹ ; Nafissi S² ; Nilipoor Y³ ; Tavasoli A⁴ ; Van Veldhoven PP⁵ ; Bonnard C⁶ ; Ng YT⁶ ; Majoie CB⁷ ; Reversade B⁶ ; Hennekam RC⁸

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1. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
2. Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Pediatric Pathology Research Center, Mofid Children's Hospital, Shahid Beheshti Medical University, Tehran, Iran
4. Department of Pediatric Neurology, Pediatrics Centre of Excellence, Children's Medical Centre Tehran University of Medical Sciences, Tehran, Iran
5. Department of Cellular Molecular Medicine, LIPIT KU Leuven, Leuven, Belgium
6. Institute of Medical Biology A STAR, Singapore
7. Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
8. Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands

Source: American Journal of Medical Genetics# Part A Published:2015

Abstract

We report on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies. including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae nasi, narrow mouth, narrow palate, and dental caries, and in one of them an inability to abduct the left eye. Electrophysiological studies showed signs of myopathy, and muscle biopsies demonstrated only nonspecific signs. Brain MRIs in two of the sibs showed leukencephalopathy with delayed myelination, frontal and parietal hyperintensities, and hippocampal atrophy in one. We have been unable to find a description of this association of features in literature. Based on the occurrence in siblings, no significant difference in phenotype between the brothers and sister, absence of manifestations in parents, and a likely consanguinity between parents we performed a homozygosity mapping. A single identical-by-descent bloc encompassing 57 genes located at 3p24.3-p25.3 was found to segregate within the family with this phenotype. © 2015 Wiley Periodicals, Inc.

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Style	Citing Format
MLA	Kariminejad A, et al.. "Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3." American Journal of Medical Genetics# Part A, vol. 167, no. 11, 2015, pp. 2508-2515.
APA	Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC (2015). Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3. American Journal of Medical Genetics# Part A, 167(11), 2508-2515.
Chicago	Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC. "Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3." American Journal of Medical Genetics# Part A 167, no. 11 (2015): 2508-2515.
Harvard	Kariminejad A et al. (2015) 'Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3', American Journal of Medical Genetics# Part A, 167(11), pp. 2508-2515.
Vancouver	Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, et al.. Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3. American Journal of Medical Genetics# Part A. 2015;167(11):2508-2515.
BibTex	@article{ author = {Kariminejad A and Nafissi S and Nilipoor Y and Tavasoli A and Van Veldhoven PP and Bonnard C and Ng YT and Majoie CB and Reversade B and Hennekam RC}, title = {Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3}, journal = {American Journal of Medical Genetics# Part A}, volume = {167}, number = {11}, pages = {2508-2515}, year = {2015} }
RIS	TY - JOUR AU - Kariminejad A AU - Nafissi S AU - Nilipoor Y AU - Tavasoli A AU - Van Veldhoven PP AU - Bonnard C AU - Ng YT AU - Majoie CB AU - Reversade B AU - Hennekam RC TI - Intellectual Disability, Muscle Weakness and Characteristic Face in Three Siblings: A Newly Described Recessive Syndrome Mapping to 3P24.3-P25.3 JO - American Journal of Medical Genetics# Part A VL - 167 IS - 11 SP - 2508 EP - 2515 PY - 2015 ER -

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