Burn‐McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
| Autor: | Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Anju Shukla, Greeshma Purushothama |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genetics Hearing loss Choanal atresia 030105 genetics & heredity Burn-Mckeown syndrome Biology medicine.disease Compound heterozygosity 03 medical and health sciences 030104 developmental biology medicine medicine.symptom Treacher Collins syndrome Genetics (clinical) Normal intellect Craniofacial dysmorphism |
| Zdroj: | American Journal of Medical Genetics Part A. 182:1313-1315 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61554 |
| Popis: | Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical features with Treacher Collins syndrome. Till date, 15 families have been described with BMKS. Homozygosity or compound heterozygosity of promoter deletions and null variants in TXNL4A are known to cause most cases of BMKS. We describe the first Indian family with two siblings with BMKS and promoter type 2 deletion in homozygous state. |
| Databáze: | OpenAIRE |
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