Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Abstract

Background Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene. Case presentation We present an 8-year-old Algerian female patient, who presented with a moderate phenotype with bilateral ptosis that fluctuates during the day and has occurred since birth. During the investigation, and despite the very probable congenital origin, we ruled out other diagnoses that could induce pathology of the neuromuscular junction. The genetic study confirmed our diagnosis suspicion by highlighting a new mutation in the COL13A1 gene. Conclusion We report a case with a mutation of the Col13A1 gene, reported in the Maghreb (North Africa), and whose phenotype is moderate compared with the majority of cases found in the literature.

Contribution of collagen XIII to lung function and development of pulmonary fibrosis

“…In 2010, we identified myasthenia in collagen XIII knockout mice10 and in further studies pointed out its importance for neuromuscular junction maturation, stabilisation and recovery postinjury 19 42 43. In 2015, loss-of function mutations in COL13A1 were found in a novel disease subclass, CMS19,4 and to date altogether 19 causative mutations have been identified 5–9 44. Besides myasthenia, most CMS19 patients experience episodes of respiratory distress that require ventilation support,5 and a fatally progressing chronic lung disease contracted after multiple lung infections has also been reported in one case 4.…”

“…Even in adulthood, many patients have had severely decreased vital capacity together with spinal and thoracic deformities. At least one individual with CMS19 developed chronic lung disease 4–9…”

“…At least one individual with CMS19 developed chronic lung disease. [4][5][6][7][8][9] Collagen XIII is expressed in the lung at a relatively high level, 10 11 but its function is still unclear. Recently, however, it has been identified in several single-cell RNA sequencing (scRNA-seq) studies as accurately delineating…”

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

“…COL13A1 -CMS has been reported in 41 patients in 19 pedigrees since 2015 [ 140 , 141 , 239 , 267 , 268 , 269 ]. All patients developed respiratory distress and weak sucking at birth.…”