Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings

Clinical Dysmorphology
James J O'ByrneWilliam Reardon

Abstract

We report recurrence of osteopathia striata with cranial sclerosis (OSCS) in two full siblings conceived by unaffected parents. Molecular confirmation of OSCS in both siblings was achieved by identification of a novel heterozygous mutation in the WTX gene. Neither parent had clinical features of OSCS nor was the pathogenic mutation demonstrable in DNA extracted from both peripheral blood leucocytes and buccal cells. This case demonstrates germline mosaicism in OSCS and represents the third report of mosaicism affecting the germline in families with OSCS. Previous reports were of parental gonadosomal mosaicism, with one showing recurrence in multiple children. Our observation adds to a body of evidence that suggests that germline mosaicism in OSCS may occur more frequently than believed previously and may have implications for counselling families with OSCS.

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Citations

Apr 30, 2021·Journal of the Korean Association of Oral and Maxillofacial Surgeons·Rohan JagtapMatthew Hansen
Aug 21, 2021·American Journal of Medical Genetics. Part a·David HeikoopMaha Saleh

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Methods Mentioned

BETA
PCR
electrophoresis

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