TY - JOUR
T1 - Café-au-lait Spots and Cleft Palate
T2 - Not a Chance Association
AU - Yamada, Mamiko
AU - Tanito, Katsumi
AU - Suzuki, Hisato
AU - Nakato, Daisuke
AU - Miya, Fuyuki
AU - Takenouchi, Toshiki
AU - Kosaki, Kenjiro
N1 - Funding Information:
The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Keio Gijuku Fukuzawa Memorial Fund for the Advancement of Education and Research, the Japan Foundation for Pediatric Research, the Japan Agency for Medical Research and Development, Shiseido Female Researcher Science Grant, (grant number No. 21-001, JP22ek0109485, JP22ek0109549)
Publisher Copyright:
© 2023, American Cleft Palate Craniofacial Association.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - cleft palate
KW - genes
KW - genetics
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U2 - 10.1177/10556656231188205
DO - 10.1177/10556656231188205
M3 - Article
C2 - 37448313
AN - SCOPUS:85165243673
SN - 1055-6656
JO - Cleft Palate-Craniofacial Journal
JF - Cleft Palate-Craniofacial Journal
ER -