Article ; Online: Novel inherited
Cold Spring Harbor molecular case studies
2024 Volume 9, Issue 4
Abstract: Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically ... ...
| Abstract | Anorectal malformations (ARMs) constitute a group of congenital defects of the gastrointestinal and urogenital systems. They affect males and females, with an estimated worldwide prevalence of 1 in 5000 live births. These malformations are clinically heterogeneous and can be part of a syndromic presentation (syndromic ARM) or as a nonsyndromic entity (nonsyndromic ARM). Despite the well-recognized heritability of nonsyndromic ARM, the genetic etiology in most patients is unknown. In this study, we describe three siblings with diverse congenital anomalies of the genitourinary system, anemia, delayed milestones, and skeletal anomalies. Genome sequencing identified a novel, paternally inherited heterozygous Caudal type Homeobox 2 ( |
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| MeSH term(s) | Male ; Female ; Humans ; Anal Canal/abnormalities ; Anorectal Malformations/genetics ; Anus, Imperforate/genetics ; Limb Deformities, Congenital ; Urogenital System ; CDX2 Transcription Factor/genetics |
| Chemical Substances | CDX2 protein, human ; CDX2 Transcription Factor |
| Language | English |
| Publishing date | 2024-01-10 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 2835759-0 |
| ISSN | 2373-2873 ; 2373-2873 |
| ISSN (online) | 2373-2873 |
| ISSN | 2373-2873 |
| DOI | 10.1101/mcs.a006294 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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