HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family

Clin Genet. 2022 Jan;101(1):142-143. doi: 10.1111/cge.14058. Epub 2021 Sep 16.

Abstract

HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Anemia, Hemolytic / diagnosis*
  • Anemia, Hemolytic / genetics*
  • Antigens, Neoplasm / genetics*
  • Cell Cycle Proteins / genetics*
  • Ciliary Motility Disorders / diagnosis*
  • Ciliary Motility Disorders / genetics*
  • Cytoskeletal Proteins / genetics*
  • Encephalocele / diagnosis*
  • Encephalocele / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Hexokinase / genetics*
  • Humans
  • Mutation*
  • Pedigree
  • Phenotype*
  • Polycystic Kidney Diseases / diagnosis*
  • Polycystic Kidney Diseases / genetics*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics*

Substances

  • Antigens, Neoplasm
  • Cell Cycle Proteins
  • Cep290 protein, human
  • Cytoskeletal Proteins
  • HK1 protein, human
  • Hexokinase

Supplementary concepts

  • Meckel syndrome type 1