期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 188, 期 1, 页码 332-335出版社
WILEY
DOI: 10.1002/ajmg.a.62510
关键词
cerebral cavernous malformation; chylous mesenteric cysts; endothelial dysfunction; KRIT1; lymphatic dysfunction; lymphatic malformation
This study reports a rare case of cerebral cavernous malformations with lymphatic defects in addition to common symptoms, expanding the spectrum of KRIT1-related diseases to include lymphatic malformations and lymphatic endothelial dysfunction.
Cerebral cavernous malformations (CCMs) of the central nervous system arise sporadically or secondary to genomic variation. Established genetic etiologies include deleterious variants in KRIT1 (CCM1), malcavernin (CCM2), and PDCD10 (CCM3). KRIT1-related disease has not been described in conjunction with lymphatic defects, although lymphatic defects with abnormal endothelial cell junctions have been observed in mice deficient in HEG1-KRIT1 signaling. We report a proband with CCMs, multiple chylous mesenteric cysts, and chylous ascites with leaky lymphatic vasculature. Clinical short-read exome sequencing detected a disease-associated KRIT1 variant (NM_194456.1:c.[1927C>T];[=], p.(Gln643*)). We postulate an expansion of KRIT1-related disease to include lymphatic malformations and lymphatic endothelial dysfunction.
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