TY - JOUR
T1 - Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings
AU - Narayanan, Dhanya L.
AU - Purushothama, Greeshma
AU - Bhavani, Gandham S.L.
AU - Shukla, Anju
PY - 2020/6/1
Y1 - 2020/6/1
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.a.61554
DO - 10.1002/ajmg.a.61554
M3 - Article
C2 - 32187816
AN - SCOPUS:85082426307
SN - 1552-4825
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
ER -