Al-Harbi Khalid M, Abdallah Atiyeh M
Pediatric Department, College of Medicine, Taibah University, Maternity and Children Hospital, Al-Madinah, Saudi Arabia.
West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Neuro Endocrinol Lett. 2016 Sep;37(4):277-281.
We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.
我们报告了一例来自沙特近亲家庭的7岁女性病例，该患者患有常染色体隐性2D型肢带型肌营养不良症（LGMD2D），最有可能是由一种罕见的SGCA突变引起的。组织病理学和分子学研究发现，该患者的SGCA基因第3外显子存在纯合突变（c.226 C>T (p.L76 F)）。其父母和一个兄弟姐妹为杂合携带者，但在来自同一地理区域的80名种族对照中未检测到该突变。计算机模拟分析显示，该突变导致了功能性的亮氨酸到苯丙氨酸的改变，对蛋白质结构有害。这是LGMD中报道的第二例p.L76F突变病例，强调了分子遗传学分析对于为患者提供最合适的治疗以及为家庭提供遗传咨询至关重要。
