WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENE

Hayato Tada; Atsushi Nohara; Masa-aki Kawashiri; Akihiro Inazu; Hiroshi Mabuchi; Masakazu Yamagishi

doi:10.1016/s0735-1097(15)61377-8

WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENE

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(15)61377-8 ◽

2015 ◽

Vol 65 (10) ◽

pp. A1377

Author(s):

Hayato Tada ◽

Atsushi Nohara ◽

Masa-aki Kawashiri ◽

Akihiro Inazu ◽

Hiroshi Mabuchi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Atp Binding ◽

Compound Heterozygous ◽

Atp Binding Cassette Transporter ◽

Whole Exome ◽

Recessive Form ◽

Compound Heterozygous Mutations ◽

Atp Binding Cassette

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.08.002 ◽

2017 ◽

Vol 60 (12) ◽

pp. 635-638 ◽

Cited By ~ 1

Author(s):

Ryojun Takeda ◽

Masaki Takagi ◽

Hiroyuki Shinohara ◽

Hiroshi Futagawa ◽

Satoshi Narumi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Japanese Patient ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2019.01.013 ◽

2020 ◽

Vol 63 (1) ◽

pp. 103623 ◽

Cited By ~ 3

Author(s):

Kun Li ◽

Runming Jin ◽

Xiaoyan Wu

Keyword(s):

Exome Sequencing ◽

Cerebellar Ataxia ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2018.05.1223 ◽

2018 ◽

Vol 79 (3) ◽

pp. AB310

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree

Clinica Chimica Acta ◽

10.1016/j.cca.2016.06.038 ◽

2016 ◽

Vol 460 ◽

pp. 135-137 ◽

Cited By ~ 5

Author(s):

Zhihong Wang ◽

Yanhong Lin ◽

Dezhu Zheng ◽

Aizhen Yan ◽

Xiangdong Tu ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Metachromatic Leukodystrophy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene

Atherosclerosis ◽

10.1016/j.atherosclerosis.2015.04.003 ◽

2015 ◽

Vol 240 (2) ◽

pp. 324-329 ◽

Cited By ~ 14

Author(s):

Hayato Tada ◽

Masa-aki Kawashiri ◽

Atsushi Nohara ◽

Reina Saito ◽

Yoshihiro Tanaka ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Tangier Disease ◽

Variant Annotation ◽

Abca1 Gene ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Journal of Translational Medicine ◽

10.1186/1479-5876-11-284 ◽

2013 ◽

Vol 11 (1) ◽

pp. 284 ◽

Cited By ~ 18

Author(s):

Xue Gao ◽

Qing-yan Zhu ◽

Yue-Shuai Song ◽

Guo-Jian Wang ◽

Yong-Yi Yuan ◽

...

Keyword(s):

Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2014.07.008 ◽

2014 ◽

Vol 1 ◽

pp. 368-372 ◽

Cited By ~ 7

Author(s):

L.J. Sremba ◽

R.C. Chang ◽

N.M. Elbalalesy ◽

E.J. Cambray-Forker ◽

J.E. Abdenur

Keyword(s):

Basal Ganglia ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Basal Ganglia Disease ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Brain and Development ◽

10.1016/j.braindev.2013.04.011 ◽

2014 ◽

Vol 36 (4) ◽

pp. 315-321 ◽

Cited By ~ 14

Author(s):

Keiko Shimojima ◽

Shino Shimada ◽

Akiko Tamasaki ◽

Shinjiro Akaboshi ◽

Yuta Komoike ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2018.03.001 ◽

2018 ◽

Vol 61 (8) ◽

pp. 434-441 ◽

Cited By ~ 2

Author(s):

Nianwei Zhou ◽

Shengmei Qin ◽

Yili Liu ◽

Lu Tang ◽

Weipeng Zhao ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Familial Hypertrophic Cardiomyopathy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations ◽

Mybpc3 Gene

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Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0363 ◽

2019 ◽

Vol 32 (3) ◽

pp. 295-300 ◽

Cited By ~ 7

Author(s):

Lina Zhu ◽

Ruijuan Wu ◽

Zhenlong Ye ◽

Ruijie Gu ◽

Yongxia Wang ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Normal Level ◽

Chinese Patient ◽

Chinese Patients ◽

Compound Heterozygous ◽

Heterozygous Carrier ◽

Whole Exome ◽

Compound Heterozygous Mutations ◽

The Brain

Abstract Background The mutations of thiamine pyrophosphokinase-1 (TPK1) gene have been frequently studied in some patients with thiamine metabolism dysfunction syndrome-5 (THMD5), while TPK1 mutations in Chinese patients have been investigated by only homozygous. A search of the literature on the mutations in the Chinese population currently published revealed that no reports of compound heterozygous mutations were reported. Here, we report a Chinese patient with compound heterozygous TPK1 mutations who underwent magnetic resonance imaging (MRI), whole exome sequencing (WES), molecular diagnosis, bioinformatics analysis, and three-dimensional (3D) protein structure analysis. Case presentation A Chinese boy was born after an uneventful pregnancy to non-consanguineous and healthy parents. On the sixth day after his birth, the lactate level of the patient was between 8.6 mmol/L and 14.59 mmol/L in plasma (the normal level is in the range of 0.5–2.2 mmol/L). Lactate was reduced to the normal level after rehydration, acid correction, expansion, and other treatments. After 4 months, the patient presented with an acute, 3-h-long, non-induced convulsions, and was admitted to our hospital for weakness, decreased oral intake, and lethargy. Results achieved by electroencephalography (EEG), cerebrospinal fluid, and other biochemical findings were normal. A visible hemorrhagic lesion was also observed in the brain. Seizures increased significantly during infection, which was accompanied by higher lactic acid levels. MRI of the brain showed an obvious signal shadow, in which bilateral frontal and temporal parietal subarachnoid cavities were widened, and more abnormal signals were observed; therefore, further consideration of hypoxic-ischemic encephalopathy and genetic metabolic disease was taken into account. Conclusions The results of WES revealed that the patient was associated with compound heterozygous mutations NM_022445.3:c.[263G>A]; [226A>G] of TPK1. His parents were non-consanguineous; while his father was found to be a heterozygous carrier with the mutation c.[263G>A], his mother was identified as a heterozygous carrier with the mutation c.[226A>G]. The results indicated that the patient had a compound heterozygous TPK1 mutation, and this is the first reported case in China.

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