Fetal hydropsGene: KLF1
Comment on list classification: Updated rating from Red to Green: Agreed by Arianna Tucci, and 3 unrelated cases of KLF1 variants and hydrops fetalis-associated anemia.
Created: 11 May 2017, 9:03 a.m.
Magor et al.,2015 (25724378) describe a case of a boy with unexpected severe neonatal anemia with hydrops fetalis as a result of compound heterozygosity for null alleles of KLF1: W30X and R319EfsX34.
Created: 4 May 2017, 10:24 a.m.
Comment on mode of inheritance: PMID:28361594 report a compound het mode of inheritance whereas PMID:21055716 report a heterozygous mode of inheritance. Therefore recorded MOI as both biallelic and monoallelic,
Created: 4 May 2017, 10:19 a.m.
Lee et al., 2016 (PMID:28361594) report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. The fetus was a compound heterozygote for two KLF1 mutations (p.Gly176Argfs*179 inherited from the mother and Pro338Thr inherited from the father).
Created: 4 May 2017, 10:15 a.m.
Araud et al, 2010 (PMID:21055716) report a CDA patient (patient ME) with hydrops fetalis-associated anemia detected at 23 weeks of gestation. The patient had 2 heterozygous mutations in KLF1: (S102P and E325K). The S102P mutation was not likely pathogenic, and the E325K mutation was likely to be responsible for the phenotype.
Created: 4 May 2017, 10:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
hydrops fetalis due to congenital dyserythropoietic anemia (CDA)
This gene has been classified as Green List (High Evidence).
Publications for KLF1 were set to 28361594; 21055716; 25724378; 26903544
Publications for KLF1 were set to 28361594; 21055716; 25724378
Phenotypes for KLF1 were set to hydrops fetalis due to congenital dyserythropoietic anemia (CDA); hydrops fetalis-associated anemia
Mode of inheritance for KLF1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
KLF1 was added to Fetal hydropspanel. Sources: Literature
KLF1 was created by rfoulger