| Autor: |
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-023-00255-8 |
| Popis: |
Abstract We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperextensible finger joints as a case of Marfanoid-progeroid-lipodystrophy syndrome. Genetic investigation revealed a heterozygous variant NC_000015.10(NM_000138.5):c.8226+5G>A in the FBN1 gene. Skipping of exon 65 and escaping nonsense-mediated decay followed by frameshift were experimentally confirmed in the proband’s mRNA. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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