Wee-Teik Keng

Hospital Kuala Lumpur

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Yanqiu Shao

Mudanjiang Normal University

Abhimanyu Garg

The University of Texas Southwestern Medical Center

Adwait Amod Sathe

The University of Texas Southwestern Medical Center

Ser-Huy Teh

University of Malaya

Sufin Yap

University of Malaya

Zhenkang Chen

The University of Texas Southwestern Medical Center

Ili Syazwana Abdullah

University of Malaya

Prashant Mishra

The University of Texas Southwestern Medical Center

Anil K. Agarwal

Southwestern Medical Center

Nicholas P. Lesner

The University of Texas Southwestern Medical Center

Cooperative Institutions

The University of Texas Southwestern Medical Center

Southwestern Medical Center

University of Malaya

Children's Medical Center

McDermott International (United States)

Children's Medical Center

Mudanjiang Normal University

Beijing Language and Culture University

Tsinghua University

Center for Life Sciences

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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Genes & Genomics (2019)

Ili Syazwana Abdullah Ser-Huy Teh Fiqri Dizar Khaidizar Lock Hock Ngu Wee-Teik Keng

genomic DNA

SNP genotyping

10.1007/s13258-019-00815-9

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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Journal of Clinical Investigation (2022)

Abhimanyu Garg Wee-Teik Keng Zhenkang Chen Adwait Amod Sathe Chao Xing

Multiple genetic loci have been reported for progeroid syndromes. However, the molecular defects in some extremely rare forms of progeria have yet to be elucidated. Here, we report a 21-year-old man of Chinese ancestry who has an autosomal recessive form of progeria, characterized by severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. Analyses of exome sequencing data from the entire family revealed only 1 rare homozygous missense variant (c.86C>T; p.Pro29Leu) in TOMM7 in the proband, while the parents and 2 unaffected siblings were heterozygous for the variant. TOMM7, a nuclear gene, encodes a translocase in the outer mitochondrial membrane. The TOMM complex makes up the outer membrane pore, which is responsible for importing many preproteins into the mitochondria. A proteomic comparison of mitochondria from control and proband-derived cultured fibroblasts revealed an increase in abundance of several proteins involved in oxidative phosphorylation, as well as a reduction in abundance of proteins involved in phospholipid metabolism. We also observed elevated basal and maximal oxygen consumption rates in the fibroblasts from the proband as compared with control fibroblasts. We concluded that altered mitochondrial protein import due to biallelic loss-of-function TOMM7 can cause severe growth retardation and progeroid features.

Progeria

Proband

Werner syndrome

10.1172/jci156864

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Citations (15)