Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.
Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of the deletion, as well as on the number and the nature of the encompassed genes. More than 100 male patients have been reported so far, while only a few cases of symptomatic female carriers have been described. We report here detailed clinical features and X chromosome inactivation analysis in two unrelated female patients with overlapping Xp21 deletions presenting with intellectual disability and inconstant muscular symptoms.
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France. Electronic address: heide.solveig@gmail.com.
Solveig
S
Heide
APHP, Hôpital Armand-Trousseau, Service de Génétique Clinique, Paris, 75012, France; APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France.
Alexandra
A
Afenjar
Hospices Civils de Lyon, Service de Génétique Clinique et Laboratoire de Cytogénétique, Lyon, 69000, France; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR5292, UCBL, Lyon, 69000, France.
Patrick
P
Edery
Hospices Civils de Lyon, Service de Génétique Clinique et Laboratoire de Cytogénétique, Lyon, 69000, France; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR5292, UCBL, Lyon, 69000, France.
Damien
D
Sanlaville
APHP, Groupe Hospitalier Pitié-Salpêtrière, Service de Cytogénétique, Paris, 75013, France.
Boris
B
Keren
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.
Alexandre
A
Rouen
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.
Alinoë
A
Lavillaureix
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.
Capucine
C
Hyon
APHP, Hôpital Armand-Trousseau, Service de Neuropédiatrie, Paris, 75012, France.
Diane
D
Doummar
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.
Jean-Pierre
JP
Siffroi
APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.
Sandra
S
Chantot-Bastaraud
D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
D005991:Glycerol Kinase
Duchenne muscular dystrophy; Glycerol kinase deficiency; Intellectual disability; X-chromosome; Xp21 deletion