Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

doi:10.1016/j.ajhg.2016.08.005

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Article

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

American journal of human genetics - 6 Oct 2016

Miyake Noriko, Fukai Ryoko, Ohba Chihiro, Chihara Takahiro, Miura Masayuki, Shimizu Hiroshi, Kakita Akiyoshi, Imagawa Eri, Shiina Masaaki, Ogata Kazuhiro, Okuno-Yuguchi Jiu, Fueki Noboru, Ogiso Yoshifumi, Suzumura Hiroshi, Watabe Yoshiyuki, Imataka George, Leong Huey Yin, Fattal-Valevski Aviva, Kramer Uri, Miyatake Satoko, Kato Mitsuhiro, Okamoto Nobuhiko, Sato Yoshinori, Mitsuhashi Satomi, Nishino Ichizo, Kaneko Naofumi, Nishiyama Akira, Tamura Tomohiko, Mizuguchi Takeshi, Nakashima Mitsuko, Tanaka Fumiaki, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD...

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Identifiers

PMID: 27666374
DOI: 10.1016/j.ajhg.2016.08.005
PMCID: PMC5065661

Genes

TBCD
ARL2
TBCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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