Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

Brain. 2020 Oct 1;143(10):e83. doi: 10.1093/brain/awaa256.

Ahmed K Saad^{1

2}, Dana Marafi^{1

3}, Tadahiro Mitani¹, Angad Jolly^{1

4}, Haowei Du¹, Hasnaa M Elbendary⁵, Shalini N Jhangiani⁶, Zeynep C Akdemir¹; Baylor-Hopkins Center for Mendelian Genomics; Richard A Gibbs^{1

6}, Jill V Hunter^{7

8}, Claudia M B C Carvalho¹, Davut Pehlivan^{1

9

10}, Jennifer E Posey¹, Maha S Zaki⁵, James R Lupski^{1

6

9

11}

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
² Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
³ Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, 13110 Safat, Kuwait.
⁴ MD/PhD Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, 77030, USA.
⁵ Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
⁶ Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
⁷ Department of Radiology, Baylor College of Medicine, Houston, Texas, 77030, USA.
⁸ E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, 77030, USA.
⁹ Texas Children's Hospital, Houston, Texas, 77030, USA.
¹⁰ Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
¹¹ Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.

No abstract available

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