Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)d
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This report is the case of a Japanese girl with Coffin‐Lowry syndrome phenotypes such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole-genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis indicated preferential inactivation of the normal X chromosome. The results explain the development of an X‐linked disease in this girl.

This girl was born to nonconsanguineous and healthy parents at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth, her length was 48.0 cm, her weight was 2,480 g, and her occipitofrontal circumference (OFC) was 32.0 cm. She showed growth failure and developmental delay since birth. She controlled her head at ~5 months, walked without support at ~2.0 years of age, and spoke single words at ~2.5 years of age. Thus, she was placed on physical and occupational therapies from 3 years of age. She frequently had myoclonic seizures and received anticonvulsive drugs including sodium valproate in infancy to early childhood. Electroencephalograms and brain magnetic resonance imaging showed no discernible abnormalities. Seizures became infrequent with age and were not observed from 5 years of age.

Chromosome analysis revealed a de novo translocation, 46,XX,t(X;11)(p22;p15)dn, in all the 20 cells examined. Subsequently, aCGH was carried out with a catalog human array according to the manufacturer′s instructions, revealing no deletion or duplication around the translocation fusion points, as well as no copy number variant absent from the parents or Database of Genomic Variants.

WGS successfully identified the fusion points of the X;11 translocation, thereby revealing the disruption of RPS6KA3 in this girl and determining her precise karyotype as 46,XX,t(X;11)(p22.12;p15.4)dn. This provides further support for the usefulness of WGS in the determination of the precise fusion points in chromosomal aberrations.

Source; https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.2826?af=R
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