Fetal hydrops

Gene: 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

Phenotypes
hydrops fetalis due to congenital dyserythropoietic anemia (CDA)

Publications

• 28361594
• 21055716