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Article

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

American journal of medical genetics. Part A - 1 Apr 2017

Sharkia Rajech, Shalev Stavit A, Zalan Abdelnaser, Marom-David Milit, Watemberg Nathan, Urquhart Jill E, Daly Sarah B, Bhaskar Sanjeev S, Williams Simon G, Newman William G, Spiegel Ronen, Azem Abdussalam, Elpeleg Orly, Mahajnah Muhammad

Abstract excerpt

PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and...

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Share to Carboxylic Ester Hydrolases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28328138
DOI: 10.1002/ajmg.a.38140

Genes

PTRH2

Variants

Provenance

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