Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

Biallelic deletions extending into the ATPase family AAA-domain containing protein 3A (ATAD3A) gene lead to infantile lethality with severe pontocerebellar hypoplasia (PCH). However, only 12 such cases have been reported worldwide to date, and the genotype–phenotype correlations are not well underst...

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Bibliographic Details
Main Authors: Tomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, Tomoko Tsuruoka, Yoshiteru Osone, Masaru Shimura, Makiko Tajika, Keiko Ichimoto, Yuki Naruke, Nana Akiyama, Sze Chern Lim, Yukiko Yatsuka, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Atsuko Okazaki, Akira Ohtake, Yasushi Okazaki, Kei Murayama
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Spinal cord hypoplasia
ATAD3
Biallelic deletion
Neonate
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000726

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