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. 2023 Feb 22;60(9):894–904. doi: 10.1136/jmg-2022-108627

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Pedigree of the two unrelated Colombian families (A, B) and one Mexican case in which the heterozygous mutation p.H157Y in TREM2 was found. Numbers following the letter ‘d’ represent the death age of the subject. The arrowhead indicates the proband with heterozygous p.H157Y variant. Black painting symbols represent affected subjects with dementia. White symbols represent unaffected family members. Green labels represent cases reported in study 1 (case 1 and case 2: FTD) and study 2 (case 3: FTD-MND). The red slash symbol was used to identify dead individuals. Blue, purple and grey colours indicate individual cases with neuropsychiatric disorders, including suicide, alcohol addiction and Parkinson’s disease (PD), respectively. Orange colour depicts a case with a somatic disease (scleroderma). FTD, frontotemporal dementia; FTD-MND, motor neuron disease-frontotemporal dementia.