Clinical features and gene variant of a pedigree affected with X-linked recessive mental retardation Claes-Jensen type / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1352-1355, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-879497
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a hemizygous c.1565C>T missense variant in exon 11 of the KDM5C gene. The transition has resulted in replacement of serine by phenylalanine at position 522 (p.Ser522Phe). Sanger sequencing showed that the patient's two elder brothers and mother carried the same variant, which was predicted to be probably damaging by SIFT, PolyPhen2 and Mutation_Taster. The three affected brothers presented with similar clinical phenotypes characterized by mental retardation, speech delay, behavioral problem, self-limited epilepsy responsible to medication, short stature and microcephaly. The mother only had mild cognitive impairment and learning disability. The same variant was not found in their father and was unreported previously.@*CONCLUSION@#The c.1565C>T (p.Ser522Phe) of the KDM5C gene probably underlay the X-linked recessive mental retardation Claes-Jensen type in this pedigree.
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Mutación Missense
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Histona Demetilasas
/
Secuenciación del Exoma
Límite:
Anciano
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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