Publications
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationJul 2023 |
10556656231188205
DOI:
10.1177/10556656231188205

Café-au-lait Spots and Cleft Palate: Not a Chance Association

Yamada, Mamiko; Tanito, Katsumi; Suzuki, Hisato; Nakato, Daisuke; Miya, Fuyuki; Takenouchi, Toshiki; Kosaki, Kenjiro
Product Used
NGS
Abstract
The recognition of syndromic forms of cleft palate is important for condition-specific management. Here, we report a patient with cleft palate, congenital heart disease, intellectual disability, and café-au-lait spots who had a deletion of chromosome 15q14. The identification of the precise breakpoints using a Nanopore-based long-read sequencer showed that the deletion spanned MEIS2 and SPRED1 loci. Cleft palate and café-au-lait spots can be ascribed to MEIS2 and SPRED1, respectively. Patients with cleft palate and café-au-lait spots should be encouraged to undergo a detailed genomic evaluation, including screening for a 15q14 deletion, to enable appropriate anticipatory medico-surgical management and genetic counseling.
Product Used
NGS

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