case_images: PMC11721680_01
case_images: The pedigree of the affected family. NA: Samples were not available for these subjects; patterned box: not tested genetically but clinically diagnosed as cases of leukodystrophy; I, II, III: first, second and third generations of the family respectively; 1-2: Maternal grandparents of the presented child; 3-12: Maternal aunts, uncles with respective spouses of the presented child; 13-26: Maternal first cousins of the presented child(The description of symbols of pedigree is given in Supplementary Figure S1).
case_images: ijms-26-00352-g001.jpg
case_images: PMC11721680_01_ijms-26-00352-g001.jpg
case_images: ijms-26-00352-f001
case_images: The couple (II-5 and II-6; Figure 1) had a cousin marriage and previously experienced the loss of two male children (III-18 and III-19; Figure 1), both diagnosed of having axonal dystrophy through clinical and neuroimaging evaluations. The family history revealed that a cousin (III-13, Figure 1) of the presented child from his maternal line and living abroad also succumbed to a similar ailment. The cousin's parents (II-3 and II-4; Figure 1) were also related by consanguinity.