Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia
Fanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial...
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2021/6686312 |
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| author | Aida Al Jabri Nusaybah Al Naim Abeer Al Dossari |
| author_facet | Aida Al Jabri Nusaybah Al Naim Abeer Al Dossari |
| author_sort | Aida Al Jabri |
| collection | DOAJ |
| description | Fanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial bones and thumbs as well, progressive bone marrow failure, irregular skin pigmentation patterns, and increased susceptibility to cancer. FANCD2 gene mutation is believed to be one of the causative mutations in Fanconi anemia, and despite many case reports that link the FANC gene mutation to multiple congenital anomalies and disease, there is no case report found to link it with genitalia abnormalities. In our paper, we report a male Saudi infant who presented to the endocrine clinic at the age of 9 months with severe ambiguous genitalia and found that he carries a homozygous variant mutation in the FANCD2 gene and we face a challenge to treat this patient since there was no previous similar case. |
| format | Article |
| id | doaj-art-db563a0dce3e49adb46c3f68d49d2eb2 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-db563a0dce3e49adb46c3f68d49d2eb22025-08-20T03:24:21ZengWileyCase Reports in Endocrinology2090-65012090-651X2021-01-01202110.1155/2021/66863126686312Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous GenitaliaAida Al Jabri0Nusaybah Al Naim1Abeer Al Dossari2Department of Pediatrics, King Abdulaziz Hospital, Ministry of the National Guard-Health Affairs, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Al-Ahasa, Saudi ArabiaDepartment of Pediatrics, King Abdulaziz Hospital, Ministry of National Guard-Health Affairs, Al-Ahasa, Saudi ArabiaDepartment of Pediatrics, King Abdulaziz Hospital, Ministry of National Guard-Health Affairs, Al-Ahasa, Saudi ArabiaFanconi anemia (FA) is a rare autosomal recessive inherited disease caused by gene mutations that are primarily involved in the response to or repair of DNA damage. FA characterizes by multiple congenital abnormalities and malformations including growth retardation, renal agenesis, absence of radial bones and thumbs as well, progressive bone marrow failure, irregular skin pigmentation patterns, and increased susceptibility to cancer. FANCD2 gene mutation is believed to be one of the causative mutations in Fanconi anemia, and despite many case reports that link the FANC gene mutation to multiple congenital anomalies and disease, there is no case report found to link it with genitalia abnormalities. In our paper, we report a male Saudi infant who presented to the endocrine clinic at the age of 9 months with severe ambiguous genitalia and found that he carries a homozygous variant mutation in the FANCD2 gene and we face a challenge to treat this patient since there was no previous similar case.http://dx.doi.org/10.1155/2021/6686312 |
| spellingShingle | Aida Al Jabri Nusaybah Al Naim Abeer Al Dossari Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia Case Reports in Endocrinology |
| title | Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia |
| title_full | Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia |
| title_fullStr | Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia |
| title_full_unstemmed | Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia |
| title_short | Homozygous Mutation in the FANCD2 Gene Observed in a Saudi Male Infant with Severe Ambiguous Genitalia |
| title_sort | homozygous mutation in the fancd2 gene observed in a saudi male infant with severe ambiguous genitalia |
| url | http://dx.doi.org/10.1155/2021/6686312 |
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