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Case Reports
. 2020 Aug 3;21(1):158.
doi: 10.1186/s12881-020-01096-w.

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report

Shanshan Xu  1   2   3 , Qun Lian  4   5   6 , Jinzhun Wu  1   2   3 , Lingli Li  1   2   3 , Jia Song  1   2   3
Affiliations
Case Reports

Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report

Shanshan Xu et al. BMC Med Genet. .

Abstract

Background: Okur-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 presentation: A 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.

Conclusion: This 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.

Keywords: CSNK2A1; Case report; Dual molecular diagnosis; Okur-Chung neurodevelopmental syndrome; TRPS1; Tricho-rhino-phalangeal syndrome type I.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Distinctive face and hands of the patient in this study. Facial dysmorphic features include sparse scalp hair, a pear-shaped nose, long flat philtrum and thin upper vermillion border
Fig. 2
Fig. 2
a Patient’s family’s pedigree. Black arrow shows the proband. Black square indicates the patient affected with OCNDS caused by a variant in the CSNK2A1 gene. Square filled with transverse lines indicates the patient affected with TRPS I caused by a variant in the TRPS1 gene. The compound heterozygote found in this patient was vertically transmitted from his father and mother respectively; b Validation by Sanger sequencing of CSNK2A1 and TRPS1 gene in this family
See this image and copyright information in PMC

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