B4GAT1 Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature
| Autor: | U. P. Singh, Meenakshi Lallar, Meetan Preet, Ladbans Kaur |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pregnancy
Fetus Pediatrics medicine.medical_specialty business.industry General Medicine medicine.disease Phenotype Pathology and Forensic Medicine Vermian hypoplasia Pediatrics Perinatology and Child Health Congenital muscular dystrophy medicine Presentation (obstetrics) business Gene Ventriculomegaly |
| Zdroj: | Fetal and Pediatric Pathology. 41:837-842 |
| ISSN: | 1551-3823 1551-3815 |
| DOI: | 10.1080/15513815.2021.1982091 |
| Popis: | Background Congenital muscular dystrophies (CMD) range in phenotype from an antenatal presentation with brain and eye anomalies to isolated muscular weakness. B4GAT1 gene has recently been associated with muscular dystrophy-dystroglycanopathy, type A, 13 and two families have been reported. Case report We report the third family with B4GAT1 associated CMD presenting as recurrent severe ventriculomegaly, cerebellar and vermian hypoplasia in fetal life, which was identified after the second affected pregnancy. The mutations identified were similar to those reported in a previously reported Indian family, homozygous, p.Asn390Asp, and p. Ala406Val, suggesting founder mutation. Conclusion B4GAT1 mutations are associated with CMD and may present in fetal life as severe ventriculomegaly. The homozygous B4GAT1 mutations, p.Asn390Asp, and p. Ala406Val, described in two Indian families (including this case) might represent a founder mutation. |
| Databáze: | OpenAIRE |
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