A Rare Spinal Muscular Atrophy Variant

Yakar Ö., Adanur Sağlam K., Yüce Kahraman Ç.

14. ULUSAL TIBBİ GENETİK KONGRESİ “Uluslararası Katılımlı”, Ankara, Turkey, 20 - 22 November 2020, pp.71

  • Publication Type: Conference Paper / Summary Text
  • City: Ankara
  • Country: Turkey
  • Page Numbers: pp.71
  • Karadeniz Technical University Affiliated: No


Objective: Distal Spinal Muscular Atrophy is a very rare condition that is presented with muscle weakness and respiratory failure which typically begins in infancy. So far more than 60 cases presented in the literature.Case: A year old male infant with growth retardation came under examination. He had feeding problems and could not gain weight. He had a weak cry, microcephalia, hypotonia and scoliosis. A metabolic disease was suspected. His brain MRI revealed no abnormality and ultrasounds were normal. He had a family history with one hypotonic sister with suspected SMA disease who died at the first age without being tested. The parents were consanguineous. Whole exome analysis revealed c.1896_1912del pathogenic variant at IGHMBP2 gene which was a homozygous frameshift type. The parents and the first child’s blood were also tested to be heterozygous and homozygous for the variant, respectively.Conclusion: He was diagnosed with Spinal Muscular Atrophy, Distal, AR 1. In this case we, again, draw attention to the importance of WES analysis in unsolved neurologic cases. Keywords: Hypotonia, SMA