Journal article

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Mariella T Simon, Shaya S Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi'a Sefuiva Reupena, Stephen T McGarvey, Ryan L Minster, Daniel E Weeks, Daniel D Nguyen, Sansan Lee, Katarzyna A Ellsworth, Frederic M Vaz, David Dimmock, James Pitt, Jose E Abdenur

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY | Published : 2020

Abstract

Mutations in the short-chain enoyl-CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI with bilateral basal ganglia involvement. We present clinical, biochemical, molecular, and functional data for four affected patients from two unrelated families of Samoan descent with identical novel compound heterozygous mutations. Family 1 has three affected boys while Family 2 has an affected daughter, all with clinical and MRI findings of Leigh syndrome and intermittent episodes of acidosis and ketosis. WES identified a single heterozygous varian..

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Grants

Awarded by Fry Family Foundation


Awarded by National Heart, Lung, and Blood Institute


Awarded by National Institutes of Health


Awarded by Sacchi Foundation


Funding Acknowledgements

Fry Family Foundation, Grant/Award Number: 40031028; National Heart, Lung, and Blood Institute, Grant/Award Numbers: 3R01HL-117626-02S1, HHSN268201100037C, HHSN268201500016C, HHSN268201800001I, HHSN268201800002I, R01HL-120393, U01HL-120393; National Institutes of Health, Grant/Award Numbers: 5T32GM008243-32, HL093093, HL133040; Sacchi Foundation, Grant/Award Number: 11164