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Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Abstract：

:The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also co-occur with multiple genetic disorders. Demonstrating a complex syndrome caused by multiple disorders, we report two siblings manifesting both similar and disparate signs and symptoms. They shared a history of episodes of hypoglycemia and lactic acidosis, but had differing exam findings and developmental courses. Clinical acumen and exome sequencing combined with biochemical and functional studies identified three genetic conditions. One sibling had Smith-Magenis Syndrome and a nonsense mutation in the RAI1 gene. The second sibling had a de novo mutation in GRIN2B, which resulted in markedly reduced glutamate potency of the encoded receptor. Both siblings had a protein-destabilizing homozygous mutation in PCK1, which encodes the cytosolic isoform of phosphoenolpyruvate carboxykinase (PEPCK-C). In summary, we present the first clinically-characterized mutation of PCK1 and demonstrate that complex medical disorders can represent the co-occurrence of multiple diseases.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Adams DR,Yuan H,Holyoak T,Arajs KH,Hakimi P,Markello TC,Wolfe LA,Vilboux T,Burton BK,Fajardo KF,Grahame G,Holloman C,Sincan M,Smith AC,Wells GA,Huang Y,Vega H,Snyder JP,Golas GA,Tifft CJ,Boerkoel CF,Hanson RW,

doi

10.1016/j.ymgme.2014.04.001

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

161-70

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(14)00126-7

journal_volume

113

pub_type

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