A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up
Abstract Background Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common...
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| Format: | Article |
| Language: | English |
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BMC
2019-11-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-019-0921-9 |
| _version_ | 1818656915610140672 |
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| author | Jaehui Ryu Jung Min Ko Choong-Ho Shin |
| author_facet | Jaehui Ryu Jung Min Ko Choong-Ho Shin |
| author_sort | Jaehui Ryu |
| collection | DOAJ |
| description | Abstract Background Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS). Case presentation A 9-year-old Korean girl presented with typical clinical features of FPS. She had generalized loose skin with decreased subcutaneous fat, skin wrinkling on the forehead and limbs, skull deformities and a peculiar facial appearance with microphthalmia and midface hypoplasia, anomalies of the digits and nails, a large umbilical hernia and a nearly normal developmental outcome. She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under − 2.0 SD from birth to the age of 10 years. SLC25A24 analysis revealed a heterozygous mutation reported previously, NM_013386:c.650G > A, p.[Arg217His]. After screening her family for the identified mutation, she was confirmed as being a de novo case of FPS caused by an SLC25A24 mutation. Conclusion We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements. |
| first_indexed | 2024-12-17T03:33:10Z |
| format | Article |
| id | doaj.art-97dbf57a421447a79a4181c4dcc28544 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-17T03:33:10Z |
| publishDate | 2019-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-97dbf57a421447a79a4181c4dcc285442022-12-21T22:05:12ZengBMCBMC Medical Genetics1471-23502019-11-012011810.1186/s12881-019-0921-9A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-upJaehui Ryu0Jung Min Ko1Choong-Ho Shin2Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s HospitalDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s HospitalDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Children’s HospitalAbstract Background Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS). Case presentation A 9-year-old Korean girl presented with typical clinical features of FPS. She had generalized loose skin with decreased subcutaneous fat, skin wrinkling on the forehead and limbs, skull deformities and a peculiar facial appearance with microphthalmia and midface hypoplasia, anomalies of the digits and nails, a large umbilical hernia and a nearly normal developmental outcome. She exhibited prenatal and postnatal growth retardation together with short stature, and records showed that her height and weight were invariably under − 2.0 SD from birth to the age of 10 years. SLC25A24 analysis revealed a heterozygous mutation reported previously, NM_013386:c.650G > A, p.[Arg217His]. After screening her family for the identified mutation, she was confirmed as being a de novo case of FPS caused by an SLC25A24 mutation. Conclusion We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements.http://link.springer.com/article/10.1186/s12881-019-0921-9Fontaine progeroid syndrome, GorlinChaudhryMoss syndrome, FontaineFarriaux syndrome, SLC25A24 |
| spellingShingle | Jaehui Ryu Jung Min Ko Choong-Ho Shin A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up BMC Medical Genetics Fontaine progeroid syndrome, Gorlin Chaudhry Moss syndrome, Fontaine Farriaux syndrome, SLC25A24 |
| title | A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up |
| title_full | A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up |
| title_fullStr | A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up |
| title_full_unstemmed | A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up |
| title_short | A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up |
| title_sort | 9 year old korean girl with fontaine progeroid syndrome a case report with further phenotypical delineation and description of clinical course during long term follow up |
| topic | Fontaine progeroid syndrome, Gorlin Chaudhry Moss syndrome, Fontaine Farriaux syndrome, SLC25A24 |
| url | http://link.springer.com/article/10.1186/s12881-019-0921-9 |
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