Dyskeratosis congenita
I Dokal - Stiehm's Immune Deficiencies, 2014 - Elsevier
Dyskeratosis congenita (DC) is a complex syndrome exhibiting marked clinical and genetic
heterogeneity. In its classic form it is characterized by mucocutaneous abnormalities, bone
marrow (BM) failure, and a predisposition to cancer. Studies over the past 15 years have led
to significant advances with 10 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TINF2,
C16orf57/USB1, TCAB1, CTC1, and RTEL1) having been characterized. Nine of these are
important in telomere maintenance, and patients usually have very short telomeres. These …
heterogeneity. In its classic form it is characterized by mucocutaneous abnormalities, bone
marrow (BM) failure, and a predisposition to cancer. Studies over the past 15 years have led
to significant advances with 10 DC genes (DKC1, TERC, TERT, NOP10, NHP2, TINF2,
C16orf57/USB1, TCAB1, CTC1, and RTEL1) having been characterized. Nine of these are
important in telomere maintenance, and patients usually have very short telomeres. These …
Dyskeratosis congenita
SA Savage, BP Alter - Hematology/oncology clinics of North America, 2009 - Elsevier
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized
clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and
is associated with high risk of developing aplastic anemia, myelodysplastic syndrome,
leukemia, and solid tumors. Patients have very short germline telomeres, and approximately
half have mutations in one of six genes encoding proteins that maintain telomere function.
Accurate diagnosis of DC is critical to ensure proper clinical management, because patients …
clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and
is associated with high risk of developing aplastic anemia, myelodysplastic syndrome,
leukemia, and solid tumors. Patients have very short germline telomeres, and approximately
half have mutations in one of six genes encoding proteins that maintain telomere function.
Accurate diagnosis of DC is critical to ensure proper clinical management, because patients …
[HTML][HTML] Dyskeratosis congenita, stem cells and telomeres
M Kirwan, I Dokal - Biochimica Et Biophysica Acta (BBA)-Molecular Basis …, 2009 - Elsevier
Dyskeratosis congenita (DC) is a multi-system disorder which in its classical form is
characterised by abnormalities of the skin, nails and mucous membranes. In approximately
80% of cases, it is associated with bone marrow dysfunction. A variety of other abnormalities
(including bone, brain, cancer, dental, eye, gastrointestinal, immunological and lung) have
also been reported. Although first described almost a century ago it is the last 10 years,
following the identification of the first DC gene (DKC1) in 1998, in which there has been …
characterised by abnormalities of the skin, nails and mucous membranes. In approximately
80% of cases, it is associated with bone marrow dysfunction. A variety of other abnormalities
(including bone, brain, cancer, dental, eye, gastrointestinal, immunological and lung) have
also been reported. Although first described almost a century ago it is the last 10 years,
following the identification of the first DC gene (DKC1) in 1998, in which there has been …
Dyskeratosis congenita in all its forms.
I Dokal - British journal of haematology, 2000 - search.ebscohost.com
Review Page 1 768 q 2000 Blackwell Science Ltd Review DYSKERATOSIS CONGENITA IN
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …
ALL ITS FORMS Classic dyskeratosis congenita (DC) is an inherited disease characterized by
the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia (Zinsser,
1906; Engman, 1926; Cole et al, 1930). A variety of noncutaneous (dental, gastrointestinal,
genitourinary, neurological, ophthalmic, pulmonary and skeletal) abnormalities have also
been reported (Sirinavin & Trowbridge, 1975; Drachtman & Alter, 1995; Dokal, 1996a; Knight …
Advances in the understanding of dyskeratosis congenita
Dyskeratosis congenita (DC) is a rare inherited syndrome exhibiting marked clinical and
genetic heterogeneity. It is characterised by mucocutaneous abnormalities, bone marrow
failure and a predisposition to cancer. Bone marrow failure is the principal cause of
premature mortality. Studies over the last 10 years have demonstrated that DC is principally
a disease of defective telomere maintenance. All DC patients have very short telomeres and
the genetically characterised cases of DC have mutations in six genes which either encode …
genetic heterogeneity. It is characterised by mucocutaneous abnormalities, bone marrow
failure and a predisposition to cancer. Bone marrow failure is the principal cause of
premature mortality. Studies over the last 10 years have demonstrated that DC is principally
a disease of defective telomere maintenance. All DC patients have very short telomeres and
the genetically characterised cases of DC have mutations in six genes which either encode …
