A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome

A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome Publisher Pubmed

Jamshidi J^{1, 2} ; Abdollahi S³ ; Ghaedi H⁴ ; Alehabib E⁴ ; Tafakhori A⁵ ; Alinaghi S⁴ ; Chapi M⁴ ; Johari AH⁴ ; Darvish H⁴

Show Affiliations

1. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
2. Department of Medical Genetics, Fasa University of Medical Sciences, Fasa, Iran
3. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
4. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
5. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran

Source: European Journal of Medical Genetics Published:2017

Abstract

Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism. Both patients were mentally normal. To detect the causative mutation all exons and exon-intron boundaries of SMOC1 gene were sequenced in patients and other normal family members. We found a homozygous missense mutation (NM_001034852.2(SMOC1):c.367T > C) in exon 3 of SMOC1 gene in both patients. As the mutation segregated with the disease in the family, it should be the causative mutation. Our study extended the mutation spectrum of SMOC1 gene related to WAS. © 2017 Elsevier Masson SAS

Style	Citing Format
MLA	Jamshidi J, et al.. "A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome." European Journal of Medical Genetics, vol. 60, no. 11, 2017, pp. 578-582.
APA	Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H (2017). A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome. European Journal of Medical Genetics, 60(11), 578-582.
Chicago	Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, Chapi M, Johari AH, Darvish H. "A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome." European Journal of Medical Genetics 60, no. 11 (2017): 578-582.
Harvard	Jamshidi J et al. (2017) 'A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome', European Journal of Medical Genetics, 60(11), pp. 578-582.
Vancouver	Jamshidi J, Abdollahi S, Ghaedi H, Alehabib E, Tafakhori A, Alinaghi S, et al.. A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome. European Journal of Medical Genetics. 2017;60(11):578-582.
BibTex	@article{ author = {Jamshidi J and Abdollahi S and Ghaedi H and Alehabib E and Tafakhori A and Alinaghi S and Chapi M and Johari AH and Darvish H}, title = {A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome}, journal = {European Journal of Medical Genetics}, volume = {60}, number = {11}, pages = {578-582}, year = {2017} }
RIS	TY - JOUR AU - Jamshidi J AU - Abdollahi S AU - Ghaedi H AU - Alehabib E AU - Tafakhori A AU - Alinaghi S AU - Chapi M AU - Johari AH AU - Darvish H TI - A Novel Mutation in Smoc1 and Variable Phenotypic Expression in Two Patients With Waardenburg Anophthalmia Syndrome JO - European Journal of Medical Genetics VL - 60 IS - 11 SP - 578 EP - 582 PY - 2017 ER -

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