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Review
. 2024 May;142(1):108469.
doi: 10.1016/j.ymgme.2024.108469. Epub 2024 Mar 28.

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Jorge Román Corona-Rivera  1 , Iván Martínez-Duncker  2 , Eva Morava  3 , Wasantha Ranatunga  3 , Roberta Salinas-Marin  4 , Ana María González-Jaimes  4 , Katia Alejandra Castillo-Reyes  5 , Christian Peña-Padilla  5 , Lucina Bobadilla-Morales  6 , Alfredo Corona-Rivera  6 , Mireya Orozco-Vela  5 , Sinhue Alejandro Brukman-Jiménez  5
Affiliations
Review

TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient

Jorge Román Corona-Rivera et al. Mol Genet Metab. 2024 May.

Abstract

The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developmental delay (GDD)/intellectual disability (ID), or even a congenital muscular dystrophy (CMD). We reviewed the phenotype of all reported individuals with TRAPPC11-opathies, including an additional Mexican patient with novel compound heterozygous missense variants in TRAPPC11 (c.751 T > C and c.1058C > G), restricted to the Latino population. In these 54 patients muscular dystrophy signs are common (early onset muscle weakness, increased serum creatine kinase levels, and dystrophic changes in muscle biopsy). They present two main phenotypes, one with a slowly progressive LGMD with or without GDD/ID (n = 12), and another with systemic involvement characterized by short stature, GDD/ID, microcephaly, hypotonia, poor speech, seizures, cerebral atrophy, cerebellar abnormalities, movement disorder, scoliosis, liver disease, and cataracts (n = 42). In 6 of them CMD was identified. Obstructive hydrocephaly, retrocerebellar cyst, and talipes equinovarus found in the individual reported here has not been described in TRAPPC11 deficiency. As in previous patients, membrane trafficking assays in our patient showed defective abnormal endoplasmic reticulum-Golgi transport as well as decreased expression of LAMP2, and ICAM-1 glycoproteins. This supports previous statements that TRAPPC11-opathies are in fact a congenital disorder of glycosylation (CDG) with muscular dystrophy.

Keywords: CDG; CMD; Congenital muscular dystrophy; Glycosylation; Hydrocephaly; LGMD; Retrocerebellar cyst; Talipes equinovarus.

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Conflict of interest statement

Declaration of competing interest The authors declare no conflict of interest.

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