Abstract
BackgroundOkur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. However, to have two Mendelian diseases in one patient is even rarer.Case presentationA 6-year-10-month-old boy characterized by special facial features, short stature and mental retardation was referred to our pediatric endocrinology department. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease. This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother. These two variants are classified as pathogenic and the causes of the presentation in this child. This patient’s father and mother have subsequently been diagnosed as having OCNDS and TRPSI respectively.ConclusionThis is the first reported case of a dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in the same patient. This patient is the first published example of vertical transmission of this recurrent CSN2A1 variant from parent to child. A novel variant in the TRPS1 gene that is pathogenic was also identified. In conclusion, identification of the variants in this patient expands the phenotypes and molecular basis of dual Mendelian diseases.
Highlights
Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases
TRPS I and TRPS III are caused by heterozygous mutations of the TRPS1gene
TRPS III differs from TRPSI by the presence of severe brachydactyly due to short metacarpals and severe short stature [3]
Summary
Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. Whole-exome sequencing (WES) was done to detect the molecular basis of his disease This patient was confirmed to carry two variants in the CSNK2A1 gene and one in the TRPS1 gene. The variant in the CSNK2A1 gene was vertically transmitted from his father, and the variant in TRPS1 gene from his mother These two variants are classified as pathogenic and the causes of the presentation in this child. The tricho-rhino-phalangeal syndrome (TRPS) was first described by Andres Giedion in 1966 [1] It is a rare autosomal dominant disorder characterized by distinctive facial features and skeletal abnormalities, such as sparse scalp hair, a peculiar shaped nose, cone-shaped epiphyses of the phalanges, and short stature [2]. TRPS1 gene encode a zinc-finger, GATA-type transcription factor, which is involved in the development and differentiation of the bones, kidneys, and hair follicles [2]
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