A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome

作者：Jamshidi Javad; Abdollahi Shokoufeh; Ghaedi Hamid; Alehabib Elham; Tafakhori Abbas; Alinaghi Somayeh; Chapi Marjan; Johari Amir Hossein; Darvish Hossein^*

来源：European Journal of Medical Genetics, 2017, 60(11): 578-582.

DOI：10.1016/j.ejmg.2017.08.006

• Waardenburg anophthalmia
• SMOC1
• Oligodactyly
• Iranian
• Hearing loss
• Cryptorchidism

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.

• 出版日期2017-11