Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.

Ashley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, Hui-Lin Chin

American journal of medical genetics. Part A 2022 Jan

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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. © 2021 Wiley Periodicals LLC.

Citation

Ashley Moller-Hansen, Stephanie Huynh, Cornelius F Boerkoel, Hui-Lin Chin. Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease. American journal of medical genetics. Part A. 2022 Jan;188(1):332-335