Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene
نویسندگان
چکیده
منابع مشابه
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, visual impairment, stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis. Fourteen died between ages 2.7 and 28 years, typically from renal failur...
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Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephrotic syndrome became apparent at 5 years of age.
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Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glome...
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H utchinson-Gilford progeria syndrome (HGPS; MIM 176670) is an extremely rare genetic disorder displaying features reminiscent of premature senescence. 2 Typically, affected children appear normal at birth, but begin to develop characteristic symptoms within the first years of life such as failure to thrive, alopecia, lipodystrophy, and scleroderma-like skin changes. Though the first HGPS cases...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2016
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.37533