Whole Exome Sequencing revealed a novel mutation in a case with SOFT syndrome

Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: English
View: 326

نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد

  • Certificate
  • من نویسنده این مقاله هستم

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این Paper:

شناسه ملی سند علمی:

CIGS15_286

تاریخ نمایه سازی: 13 بهمن 1398

Abstract:

SOFT syndrome (MIM614813) is a rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by mutations in the POC1A gene. SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. The facial dysmorphism includes a triangular face with a pointed chin, relative macrocephaly with frontal bossing, frontal balding and midface hypoplasia. Only a few patients with mutation-confirmed SOFT syndrome have been reported to date, most of whom carried homozygous variants that were strongly associated with consanguineous marriages. We report a 5 years old girl with SOFT syndrome showing short stature. Karyotyping did not show any chromosomal abnormality. After DNA extraction, Whole Exome sequencing was used to reveal if pathogenic variants exist. In silico analyses were applied to see if the variants are pathogenic. PCR and Sanger sequencing was performed to check the variant in the patients. Segregation analysis was also done to check the family members. The results showed a novel homozygote mutation in exon5 of POC1A gene. The mutation was confirmed by sanger sequencing in family members. POC1A encodes the POC1 centriolar protein A, which plays a role in centrosome-mediated cell mitosis control via mitotic spindle organization and cilia formation. Therefore, SOFT syndrome could be classified as a type of ciliopathy. The novel mutation found in this study can provide another evidence for the role of POC1A in SOFT syndrome. This variant can help to identify mutations in families with SOFT syndrome. This is the first study presents the mutation in Iranian patients with SOFT syndrome.