Galloway-Mowat syndrome

Definition

Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies on small series describing the clinical and histopathological features of GAMOS have revealed the clinical heterogeneity of this condition. The consistent morphological hallmark is microcephaly, which is often present at birth (primary microcephaly) but might also develop postnatally (secondary microcephaly). Major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria. These structural brain abnormalities are associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and rapid deterioration of renal function. Death usually occurs within few years from the onset. Very recently, several genes have been identified as the cause of GAMOS.

References:

[1]. Atsushi Fujita, et al. Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018 Dec;84(6):814-828. [Content Brief]

[2]. Christelle Arrondel, et al. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun. 2019 Sep 3;10(1):3967. [Content Brief]

[3]. Daniela A Braun, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. [Content Brief]

[4]. Daniela A Braun, et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 Nov;176(11):2460-2465. [Content Brief]

[5]. Estelle Colin, et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet. 2014 Dec 4;95(6):637-48. [Content Brief]

[6]. Hervé Sartelet, et al. Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature. Pathol Res Pract. 2008;204(6):401-6. [Content Brief]

[7]. Marianna Pezzella, et al. Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature. Seizure. 2010 Mar;19(2):132-5. [Content Brief]

[8]. Rasim Ozgur Rosti, et al. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 Jun;54(6):399-403. [Content Brief]

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