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A 3-year-old boy with lethargy, leg muscle degeneration and mental retardation

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Year: 2018
COI code: CIGS15_394
Paper Language: English

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Authors A 3-year-old boy with lethargy, leg muscle degeneration and mental retardation

  Fatemeh Nabizadeh - Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
Abdolazim Nejatizadeh - Bandar -Abbas Medical Genetics Laboratory (BMGL), Hormozgan, Iran
Mohammad Shekari - Bandar -Abbas Medical Genetics Laboratory (BMGL), Hormozgan, Iran
  Shabnaz Koochakkhani - Student Research Committee, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
Zeinab Allamehzadeh - Bandar -Abbas Medical Genetics Laboratory (BMGL), Hormozgan, Iran
Banafsheh Ahmadi - Bandar -Abbas Medical Genetics Laboratory (BMGL), Hormozgan, Iran

Abstract:

Introduction: Maple syrup urine disease (MSUD) is an autosomal recessive disease characterized by disruption of the normal activity of the branched-chain α-ketoacid dehydrogenase (BCKAD) complex. MSUD can be caused by homozygous or compound heterozygous mutation in at least 3 genes: BCKDHA, BCKDHB, and DBT. MSUD presents in the neonate with feeding intolerance, failure to thrive, lethargy and maple syrup odor to urine. Methods: We analyzed a 3-year-old boy who was born of a consanguineous marriage visited at Bandar Abbas medical genetics laboratory (BMGL) of Hormozgan province Iran, suspected with MSUD. The mother’s amniotic fluid(AF) sample was taken in 15th week of gestational age and DNA was extracted. Targeted NGS (Next Generation sequencing) was suggested followed by sanger sequencing for mutation confirmation in patient and family members (parents and sister). The fetus genotype was examined by sanger sequencing for the known mutation. Results: NGS analysis showed a c.C653G homozygote mutation in BCKDHB gene for patient. Sanger sequencing investigation indicated heterozygousity of parents for same mutation but his sister’s homozygosity for wild type allele. Similarly, sanger sequencing on fetal cells showed that the fetus is also heterozygous for the c.C653G mutation.Conclusions: We have shown a case of MSUD type Ib. Homozygote c.C653G mutation has been reported as the causative defect for the patient. Fetus genotype analysis for the 3rd child of family showed heterozygosity for the mutation. We prevented the recurrence of a rare disease in Hormozgan province by early identification of c.C653G mutation in parents and its examination in their embryo.

Keywords:

MSUD, BCKDHB, Mutation, NGS

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COI code: CIGS15_394

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Nabizadeh, Fatemeh; Abdolazim Nejatizadeh; Mohammad Shekari; Shabnaz Koochakkhani; Zeinab Allamehzadeh & Banafsheh Ahmadi, 2018, A 3-year-old boy with lethargy, leg muscle degeneration and mental retardation, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_394.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Nabizadeh, Fatemeh; Abdolazim Nejatizadeh; Mohammad Shekari; Shabnaz Koochakkhani; Zeinab Allamehzadeh & Banafsheh Ahmadi, 2018)
Second and more: (Nabizadeh; Nejatizadeh; Shekari; Koochakkhani; Allamehzadeh & Ahmadi, 2018)
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Type: Medical University
Paper No.: 493
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