Bone Marrow Failure

Gene: NOP10

I don't know

Only 2 families reported, both with telomere shortening but variable phenotypes
PMID: 17507419 - consanguineous family with classical Dyskeratosis congenita (a multi-system bone marrow failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, leukoplakia and an increased predisposition to cancer). Homozygous c.100C>T p.Arg34Trp was identified in 3 affected siblings. Affected homozygous individuals have significant telomere shortening and reduced TERC levels. Reduced TERC levels also seen in in vitro assessment of the missense variant.
PMID: 32554502 - homozygous c.47C>T, p.Thr16Met identified in 2 children (distant cousins) with hearing impairment, cataract, nephrosis, and enterocolitis that died age 3 yrs. Telomere shortening was identified in both individuals. Only one of the cases was diagnosed with mild dyskeratosis after genetic diagnosis, but both cases died before the typical age of onset for the diagnostic triad of dyskeratosis congenita. In vitro assays demonstrated the variant alters the pseudouridylation pocket of the H/ACA snoRNP complex.

Created: 4 May 2023, 10:03 a.m. | Last Modified: 4 May 2023, 10:03 a.m.

Panel Version: 1.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137

Publications

• 17507419
• 32554502

I don't know

PMID 32139460: multiplex family with 4 affected individuals and heterozygous variant in NOP10.

Created: 4 Jun 2023, 4:20 a.m. | Last Modified: 4 Jun 2023, 4:20 a.m.

Panel Version: 1.41

Single family reported.

Created: 7 Dec 2019, 8:45 p.m. | Last Modified: 7 Dec 2019, 8:45 p.m.

Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400

Publications

• 17507419
• 32139460