TY - JOUR
T1 - Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
AU - Majethia, Purvi
AU - Do Rosario, Michelle C.
AU - Kaur, Parneet
AU - Karanvir,
AU - Shankar, Raagul
AU - Sharma, Suvasini
AU - Siddiqui, Shahyan
AU - Shukla, Anju
N1 - Funding Information:
We thank the patients and their families for participating in the study. We also thank National Institutes of Health, USA for funding the project titled “Genetic Diagnosis of Neurodevelopmental Disorders in India” (1R01HD093570‐01A1).
Publisher Copyright:
© 2021 John Wiley & Sons Ltd/University College London
PY - 2022/3
Y1 - 2022/3
N2 - TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4-related disorder previously. Only a single variant, an in-frame deletion in one family has been reported outside a recurrent disease-causing variant. We report three individuals from two Indian families harboring novel bi-allelic missense variants c.191T>C and c.278C>T (NM_016146.6) in TRAPPC4 with classic clinical presentation in one and milder and later onset in the other family. We provide further evidence for muscle involvement and review the detailed phenotypic findings in individuals reported with this disorder till date.
AB - TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4-related disorder previously. Only a single variant, an in-frame deletion in one family has been reported outside a recurrent disease-causing variant. We report three individuals from two Indian families harboring novel bi-allelic missense variants c.191T>C and c.278C>T (NM_016146.6) in TRAPPC4 with classic clinical presentation in one and milder and later onset in the other family. We provide further evidence for muscle involvement and review the detailed phenotypic findings in individuals reported with this disorder till date.
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U2 - 10.1111/ahg.12452
DO - 10.1111/ahg.12452
M3 - Article
AN - SCOPUS:85120687539
SN - 0003-4800
VL - 86
SP - 94
EP - 101
JO - Annals of Human Genetics
JF - Annals of Human Genetics
IS - 2
ER -