Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly.

Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide 1.

Typically, microcephaly and CNS abnormalities are present from birth, with associated severe psychomotor impairment and seizures. However, microcephaly may occur later in development 1. Treatment-resistant nephrotic syndrome generally presents in the third month of life, but albuminuria may be present from birth 1.

Five monogenic mutations have been implicated in the pathogenesis of Galloway-Mowat syndrome. WD repeat-containing protein 73 (WDR73), which is a critical scaffold component of protein-complex assembly, was the first to be identified 1,2. Recently, mutations in four genes encoding the four subunits of the kinase, endopeptidase and other proteins of small size (KEOPS) complex have been identified in 32 families affected by Galloway-Mowat syndrome 3. KEOPS is essential to the function of transfer RNA and therefore protein translation and cell growth 4. The exact mechanism of pathogenesis is unclear.

A range of structural CNS changes have been reported, including gross abnormalities of cerebral parenchyma - cerebral atrophy, encephalomalaciaporencephaly - and defects in neuronal migration - agyria, microgyria, polymicrogyria 1.

There is no treatment for Galloway-Mowat syndrome 1. Affected individuals may survive for one year 1

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Article information

rID: 66495
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:

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