Schimmelpenning Feuerstein-Mims Syndrome with Isolated Enlargement of Left Temporal Lobe

Gowdar, Guruprasad; Nyamagoudar, Anita; Chezhian, I Prashanth

doi:10.1007/s12098-014-1522-4

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“…Eye abnormalities can be recognized in ~60% of patients with SMFS and both of our SFMS patients exhibited eye choristoma, which is the most commonly identified ocular anomaly; optic nerve coloboma, a defect observed only in 7% of patients with this syndrome (Arevalo, Lasave, Arevalo, & Shields, ; Paulidis, Cantalupo, Boria, Cossu, & Pisani, ; Shields, Shields, Eagle, Arevalo, & DePotter, ), was also observed in our patients. Bilateral hearing loss, identified in SFMS patient #4, has been previously described unilaterally in a single subject (Gowdar, Nyamagoudar, & Chezhian, ). Our SFMS patients exhibited the linear cutaneous lesions on the scalp and face, which are the most common localization (Eisen & Michael).…”

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confidence: 72%

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacón‐Camacho

López-Moreno

Morales‐Sanchez³

et al. 2019

Molec Gen & Gen Med

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Background Postzygotic KRAS , HRAS , NRAS , and FGFR1 mutations result in a group of mosaic RASopathies characterized by related developmental anomalies in eye, skin, heart, and brain. These oculocutaneous disorders include oculoectodermal syndrome (OES) encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐Feuerstein‐Mims syndrome (SFMS). Here, we report the results of the clinical and molecular characterization of a novel cohort of patients with oculocutaneous mosaic RASopathies. Methods Two OES, two ECCL, and two SFMS patients were ascertained in the study. In addition, two subjects with unilateral isolated epibulbar dermoids were also enrolled. Molecular analysis included PCR amplification and Sanger sequencing of KRAS , HRAS , NRAS , and FGFR1 genes in DNA obtained from biopsies (skin/epibulbar dermoids), buccal mucosa, and blood leukocytes. Massive parallel sequencing was employed in two cases with low‐level mosaicism. Results In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. No mutations were shown in DNA from conjunctival lesions in two subjects with isolated epibubar dermoids. Conclusion Our study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations in KRAS and FGFR1 is a commonly involved mechanism in these rare oculocutaneous anomalies.

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