Articles, Issue 3/2022

Case of an Infant with a Mutationin the IGHMBP2 gene Unique to the Region of Bulgaria, Leading to aSevere Clinical Manifestation of the Rare Disease Spinal Muscular Atrophywith Respiratory Distress Type 1

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S. Stoichkova, V. Simov, A. Banchev, D. Avdzhieva


Abstract

The IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2)  gene is located on the long arm of the  chromosome 11. The protein that it encodes can be found in every human cell and it’s part of the ATP-dependent helicases involved in many key metabolic processes in the cell, especially in the cells of the α-motor neurons. Mutations in this gene can lead to rare degenerative neuro-muscular diseases -spinal muscular atrophy with respiratory distress type1 (SMARD1) and the clinically milder Charcot-Marie-Tooth type 2S (CMT2S). The typical clinical manifestations include dystal muscular hypotonia, difficulties with feeding, respiratory failure due to diaphragmatic palsy which usually develop in the period from 6 weeks to 6 months postnatal age.

The case depicted in this article is one of an unusual and fulminant clinical presentation in an infant born from a consanguineous marriage who is a homozygous carrier of the c.780del (p.Gln260Hisfs*25) mutation in the IGHMBP2 gene. This same mutation has been mentioned only once in the scientific literature regarding 2 siblings from a Bulgarian family.

Key words: SMARD1, IGHMBP2, consanguineous marriage, mutation. atypical presentation

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Address for correspondence:

Department of Pediatrics, National Cardiology
Hospital, Sofia
Ilinden, 65, “Koniovitza”, Str.
1309, Sofia
Bulgaria
e-mail: sstoichkova12@gmail.com