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Reporte de caso en población mexicana de trastorno asociado al gen BCL11B / BCL11B associated disorder a case report in Mexican population. Case report
Resumen
Resumen
Introducción: las variantes del gen BCL11B se asocian con el trastorno del desarrollo intelectual con retraso del habla, facies dismórficas y anomalías de las células T (IDDSFTA) (OMIM 618092). La presentación clínica incluye desórdenes del neurodesarrollo (retraso psicomotor, discapacidad intelectual, retraso del lenguaje, características del espectro autista), dismorfias faciales y manifestaciones inmunológicas (asma, alergias, disminución de células T). El objetivo de este trabajo es presentar un caso de IDDSFTA en población mexicana con una variante probablemente patogénica no reportada previamente y compararlo con lo descrito en la literatura.
Caso clínico: paciente hombre de 4 años 6 meses con retraso del neurodesarrollo y lenguaje, de padres sanos, no consanguíneos. Presenta lenguaje incomprensible, atención conjunta, plagiocefalia, epicanto bilateral, fisuras palpebrales cortas, nariz con punta prominente, filtrum largo, plano Likert 4, labios delgados, boca pequeña, apiñamiento dental, hipodoncia, pabellones auriculares de implantación limítrofe, pezones pequeños y teletelia. Se realizó WES que reportó variante probablemente patogénica del gen BCL11B.
Conclusión: conforme a la información disponible, la variante detectada no ha sido descrita en la literatura, es el primer caso reportado de esta patología en población mexicana. Las manifestaciones clínicas del paciente concuerdan con las descritas del IDDSFTA lo que sustenta que esta variante probablemente patogénica sea la etiología del fenotipo en nuestro paciente.
Abstract
Background: BCL11B variants are associated with intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities (IDDSFTA) (OMIN 618092). The clinical features include neurodevelopmental disorders (psychomotor delay, intellectual disability, language delay, autism spectrum features), facial dysmorphisms, immunological manifestations (asthma, allergies and T cells decrease). The aim is to present an IDDSFTA case in Mexican population with a probably pathogenic variant that has not been reported before and to compare it with literature cases.
Clinic case: A 4-years-old male presents neurodevelopmental and language delay, healthy parents, non-consanguineous. He presents incomprehensible language, joint attention, plagiocephaly, bilateral epicanthus, short palpebral fissures, prominent tip nose, long and flat philtrum, Likert scale 4, thin lips, small mouth, dental crowding, hypodontia, borderline set ears, small nipples and teletelia. WES test reported a BCL11B gene, probably a pathogenic variant.
Conclusions: In line with the information available, the detected variant has not been described before in literature; it is the first case reported of this pathology in the Mexican population. Patient’s clinical features are IDDSFTA-like reported, which supports that this likely pathogenic variant is the aetiology of the phenotype in our patient.
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DOI: https://doi.org/10.24875/10.5281/zenodo.13306819
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