KY位于3号染色体上，在骨骼肌中编码转谷氨酰胺酶样蛋白，即脊柱侧后凸肽酶。KY主要参与神经肌肉交叉点的形成和稳定，这对于肌肉骨骼系统的发育至关重要。KY突变导致肌原纤维性肌病-7（MFM-7）和遗传性痉挛性截瘫（HSP）。MFM-7是一种早期发作的肌肉疾病，具有常染色体隐性遗传，其特征是进行性肌肉无力和关节挛缩。在这里，我们描述了一个由KY纯合新变体引起的MFM-7伊朗家族。我们鉴定了一个纯合变体(NM_178554.6:c.1247T>A，p。Ile416Asn）在两名近亲父母出生的患者中的KY，并且通过全外显子组测序在其父母中具有相同的杂合突变。患者表现出肌肉无力，肌肉萎缩,行动限制，和反射减退.最后,我们回顾了先前报道的KY致病变异病例的表型和相应基因型.
KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. KY is primarily involved in the formation and stabilization of neuromuscular intersections making it essential for the development of the musculoskeletal system. Mutations in KY cause Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP). MFM-7 is an early onset muscle disorder with an autosomal recessive inheritance marked by progressive muscle weakness and joint contractures. Herein, we describe an Iranian family with MFM-7 caused by a homozygous novel variant in KY. We identified a homozygous variant (NM_178554.6:c.1247T > A, p. Ile416Asn) in KY in two patients born to consanguineous parents and the same heterozygous mutation in their parent by Whole-Exome Sequencing. The patients manifest muscle weakness, muscle atrophy, mobility restriction, and hyporeflexia. Lastly, we reviewed the phenotype and corresponding genotype of the previously reported cases with pathogenic variants in KY.
