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Article

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

Orphanet journal of rare diseases - 17 Aug 2013

Lahiry Piya, Racacho Lemuel, Wang Jian, Robinson John F, Gloor Gregory B, Rupar C Anthony, Siu Victoria M, Bulman Dennis E, Hegele Robert A

Abstract excerpt

BACKGROUND: To elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing. METHODS AND RESULTS: We identified four individuals with an autosomal recessive condition affecting the central nervous system (CNS). Neuroimaging studies identified progressive global CNS tissue loss presenting early in life, associated with...

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Identifiers

PMID: 23957953
DOI: 10.1186/1750-1172-8-126
PMCID: PMC3765793

Genes

TMPRSS4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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