Citation Information :
Rajendran A, Madhuprakash S. Duchenne Muscular Dystrophy: Carrier Discretion to Prenatal Care—Report of a Case. Int J Infertil Fetal Med 2018; 9 (1):25-26.
Duchenne muscular dystrophy (DMD) is the most common hereditary cause of neuromuscular weakness and the most common of X-linked recessive diseases. It is caused by a mutation in the DMD gene located on chromosome X, 21.2 locus that encodes the dystrophin protein. Nucleic acid analytical techniques have advanced so much that the identification of potential carriers is possible by assessment of the causative mutations. The following case report describes the identification of a denovo dystrophin gene mutation in a carrier female and the subsequent antenatal workup of her present pregnancy
Flanigan KM. Duchenne and Becker muscular dystrophies. Neurol Clin 2014;32:671-688.
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003;2:731-740.
Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR. Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res 2012;22:25-34.
Grimm T, Kress W, Meng G, Müller CR. Risk asse ssment and genetic counseling in families with Duchenne muscular dystrophy. Acta Myologica. 2012 Dec;31(3):179-183.
Ren Z, Zeng HT, Xu YW, Zhuang GL, Deng J, Zhang C, et al. Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification. Fertility and sterility. 2009 Feb 1;91(2):359-364.
Hellani A, Coskun S, Tbakhi A, Al-Hassan S. Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reprod Biomed Online 2005;10:376-380.
Yoo SK, Lim BC, Byeun J, Hwang H, Kim KJ, Hwang YS, L et al. Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus. Clinical Chemistry 2015 Jun;61(6):829- 837.