Clinical Case 1 : GENETICS It is evaluated male of 9 years of age that comes to

Question

Clinical Case 1 : GENETICS

It is evaluated male of 9 years of age that comes to consultation for presenting infection of upper respiratory tract, which according to the mother present in a recurrent way, when interrogating it, it refers that the child has always presented difficulty to develop gait, With frequent falls and unsteady walking. It also refers to difficulty in articulating words and excessive salivation. He carries an MRI with moderate cerebellar atrophy. When examining the child, it is observed that it presents horizontal nystagmus and dilation of the capillary vessels of the conjunctiva of both eyes. It may be determined that you may be diagnosed with Ataxia Telangiectasia.

1)From a genetic point of view, what does this clinical entity consist of?

2)What mechanism of DNA repair is affected?

Caso Clinico 1 See evalua masculino de 9 anos de edad que acude a consulta por presentar infeccion de vias respiratorias altas, que de acuerdo con la madre se presentan de manera recurrente, al nterrogarla la misma refiere que el nino ha presentado desde siempre dificultad para desarrollar la marcha, con caidas frecuentes y deambulacion inestable. Ademas refiere dificultad para la articulacion de palabras y salivacion excesiva. Lleva consigo una resonancia magnética en la cual se observa atrofia cerebelosa moderada. Al examinar el nino se observa que el mismo presenta nistagmo horizontal y dilatacion de los vasos capilares de la conjuntiva de ambos ojos. Se determina podria estar cursando con diagnostico de Ataxia Telangiectasia Desde el punto de vista genético En qué consiste esta entidad clinica? iQue mecanismo de reparacion del ADN se ve afectado?

Explanation / Answer

1. Genetically, this disease is caused due to mutations on the ATM serine/threonine kinase gene located on chromosome 11. As the mutation is rare, most cases occur as they inherit the mutation from both the parents, as the disease is autosomal recessive.

2. The affected DNA repair mechanism is the ATM repair mechanism for double strand breaks and other stress induced breaks. As the ATM mechanism is not in working condition, DNA relication occurs with these breaks in place.

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