PMC10319579_01
Cerebral and musculoskeletal system MRI. (A-C) Periventricular and subcortical white matter hyperintensities with a nonspecific demyelination pattern. FLAIR (A) and coronal T2 (B, C) sequences. (D, E) T2FS sequences. Thoracolumbar scoliosis secondary to muscular atrophy, without fusion defects or fragmentation of the vertebral bodies or compromise of the spinal canal. (F, G) Pelvis short tau inversion recovery (STIR) and T1 sequences. Diffuse and generalized muscular atrophy with Goutallier grade 3 fatty replacement without muscle edema. (H,I) T1 sequences of pelvic and shoulder girdle. Generalized decrease in muscle volume with Goutallier grade 3 fatty infiltration.
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F1
In the thorax, atelectasis was observed in the upper and right posterior lobes, with a deformity of the thorax (Figure 1).
CMD1A Colombian patient. (A) Eight-year-old female patient with severe hypotonia, scoliosis, bilateral clubfoot, and hip dysplasia. (B) The patient presents elongatedmyopathic facies.
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F2
The patient had severe hypotonia, scoliosis, bilateral clubfoot, and hip dysplasia (Figure 2).
Timeline of clinical events.
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F3
Clinical events are presented in Figure 3.
Pedigree and variant information. (A) Pedigree of the patient and Sanger sequencing electropherogram of the patient and her parents. The image shows the novel probably pathogenic variant p.Ile3082Leufs*3. (B) Image showing the spectrum of LAMA2 mutations alongside the two variants of our patient. To the right of the p.Ile3082Leufs*3 mutation, in yellow, lies the already published and truncating p.Arg3085* variant. The black dots showcase truncating mutations, the green dots represent missense variants, and the orange dots represent splicing variants. The laminin N-terminal domain is represented in green, laminin epidermal growth factor-like (EGF) domain in salmon, laminin B domain in purple, laminin domain I in yellow, laminin domain II in fuchsia, and laminin G domain in orange and pink.
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F4
WES results were confirmed as the patient was compound heterozygous of the aforementioned variants, the father was heterozygous for the LAMA2(NM_000426.3):c.9227_9243dupTTGGCCTAACAACCAGT (p.Ile3082Leufs*3) variant, and the mother was heterozygous for the LAMA2(NM_000426.3):c.4198C>T (p.Arg1400Ter) variant (Figure 4).