Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation
Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two ca...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dhar |
| _version_ | 1811279351840243712 |
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| author | Sandipan Dhar Rashmi Agarwal Sahana M Srinivas Subhra Dhar Apurba Ghosh |
| author_facet | Sandipan Dhar Rashmi Agarwal Sahana M Srinivas Subhra Dhar Apurba Ghosh |
| author_sort | Sandipan Dhar |
| collection | DOAJ |
| description | Infantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two cases of ISH with different clinical presentations confirmed by CMG2 gene mutations. Homogenous 79 bp deletion of the entire exon 11 reported in one of the cases has not been reported previously. |
| first_indexed | 2024-04-13T00:53:06Z |
| format | Article |
| id | doaj.art-5003a1e4a4f54acf9ca4f13fe47675a7 |
| institution | Directory Open Access Journal |
| issn | 2319-7250 |
| language | English |
| last_indexed | 2024-04-13T00:53:06Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj.art-5003a1e4a4f54acf9ca4f13fe47675a72022-12-22T03:09:48ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502022-01-0123212612810.4103/ijpd.ijpd_57_21Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutationSandipan DharRashmi AgarwalSahana M SrinivasSubhra DharApurba GhoshInfantile systemic hyalinosis (ISH; MIM #236490) and juvenile hyaline fibromatosis (MIM #228600) represent two spectrums of the rare autosomal recessive disorder, the hyaline fibromatosis syndrome caused by mutations in ANTXR2/CMG2 encoding capillary morphogenesis protein-2. Herein, we report two cases of ISH with different clinical presentations confirmed by CMG2 gene mutations. Homogenous 79 bp deletion of the entire exon 11 reported in one of the cases has not been reported previously.http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dharchildhyaline fibromatosis syndromeinfantile systemic hyalinosisjuvenile hyaline fibromatosis |
| spellingShingle | Sandipan Dhar Rashmi Agarwal Sahana M Srinivas Subhra Dhar Apurba Ghosh Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation Indian Journal of Paediatric Dermatology child hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis |
| title | Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation |
| title_full | Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation |
| title_fullStr | Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation |
| title_full_unstemmed | Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation |
| title_short | Infantile systemic hyalinosis – Report of two cases with identification of a novel gene mutation |
| title_sort | infantile systemic hyalinosis report of two cases with identification of a novel gene mutation |
| topic | child hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis |
| url | http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=2;spage=126;epage=128;aulast=Dhar |
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