TY - JOUR
T1 - TRAPPC11-CDG muscular dystrophy
T2 - Review of 54 cases including a novel patient
AU - Corona-Rivera, Jorge Román
AU - Martínez-Duncker, Iván
AU - Morava, Eva
AU - Ranatunga, Wasantha
AU - Salinas-Marin, Roberta
AU - González-Jaimes, Ana María
AU - Castillo-Reyes, Katia Alejandra
AU - Peña-Padilla, Christian
AU - Bobadilla-Morales, Lucina
AU - Corona-Rivera, Alfredo
AU - Orozco-Vela, Mireya
AU - Brukman-Jiménez, Sinhue Alejandro
N1 - Publisher Copyright:
© 2024 Elsevier Inc.
PY - 2024/5
Y1 - 2024/5
N2 - 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.
AB - 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.
KW - CDG
KW - CMD
KW - Congenital muscular dystrophy
KW - Glycosylation
KW - Hydrocephaly
KW - LGMD
KW - Retrocerebellar cyst
KW - Talipes equinovarus
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UR - http://www.scopus.com/inward/citedby.url?scp=85189562542&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2024.108469
DO - 10.1016/j.ymgme.2024.108469
M3 - Review article
AN - SCOPUS:85189562542
SN - 1096-7192
VL - 142
JO - Molecular genetics and metabolism
JF - Molecular genetics and metabolism
IS - 1
M1 - 108469
ER -