RESUMEN
OBJECTIVE@#To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).@*METHODS@#High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.@*RESULTS@#High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.@*CONCLUSION@#The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
Asunto(s)
Humanos , Encefalopatías Metabólicas Innatas/genética , Creatina , Pruebas Genéticas , Heterocigoto , Discapacidad Intelectual Ligada al Cromosoma X , MutaciónRESUMEN
Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder, characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A 12-year-old boy with classical features of CA II deficiency is reported who was found to be homozygous for the mutation in CA II gene and parents were heterozygous for the same mutation .To the best of our knowledge this is the first case report of mutation proven CA II deficiency from India.
Asunto(s)
Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/genética , Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/genética , Calcinosis/diagnóstico , Calcinosis/genética , Anhidrasa Carbónica III/deficiencia , Anhidrasa Carbónica III/genética , Niño , Genes Recesivos/genética , Humanos , India , Mutación Missense/genética , Osteopetrosis/diagnóstico , Osteopetrosis/genética , Linaje , Mutación Puntual , Tomografía Computarizada por Rayos XRESUMEN
The last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. However, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. Common genetic disorders of brain development include septo-optic dysplasia, schizencephaly, holoprosencephaly, lissencephaly and hindbrain malformations. For each of these disorders, a critical step in brain development is disrupted. Specific genetic diagnosis is now possible in some patients with most of these conditions. For the remaining patients, it is possible to apply gene-mapping strategies using newly developed high-density genomic arrays to clone novel genes. This is especially important in countries like Iran where large family size and marriage between relatives makes these strategies tremendously powerful