Growth failure

Gene: CRIPT

Green List (high evidence)

PMID: 37013901 identified 6 individuals with Rothmund-Thomson syndrome characterised by poikiloderma, sparse hair, small stature, skeletal defects, cancer, cataracts, resembling features of premature aging. Two new variants identified and 4 were already published. 5 were hom, 1 was chet, all with different variants.
All CRIPT individuals fulfilled the diagnostic criteria for RTS, and additionally had neurodevelopmental delay and seizures.

CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors,

c.132del p.(Ala45Glyfs*82), hom
c.227G>A, p.(Cys76Tyr), hom
c.133_134insGG,p.(Ala45Glyfs*82),hom
c.141del p.(Phe47Leufs*84), hom
c.8G>A p.(Cys3Tyr), 1,331 bp del exon 1, chet
c.7_8del; p.(Cys3Argfs*4), hom

Created: 6 Apr 2023, 3:01 a.m. | Last Modified: 6 Apr 2023, 3:01 a.m.

Panel Version: 1.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002

Publications

• PMID: 37013901

PMID: 36630262 reported a patient with profound prenatal/postnatal growth restriction, developmental delay, dysmorphic facial features, and skin lesions along with the findings of bicytopenia and extensive retinal pigmentation defect. A novel truncating homozygous variant was detected in CRIPT gene.

Created: 23 Feb 2023, 3:46 a.m. | Last Modified: 23 Feb 2023, 3:46 a.m.

Panel Version: 1.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies

Publications

• PMID: 36630262

I don't know

PMID: 24389050
- 2 unrelated probands homozygous for PTVs. However 1 was deceased and DNA was unavailable therefore parents were sequenced

PMID: 27250922
- 1x proband
- het for a missense which was maternally inherited. Because the father was negative for SNVs, they did CMA and found a small heterozygous deletion 1.6kb in size encompassing exon 1 of CRIPT. This deletion was paternally inherited

Created: 18 Aug 2021, 10:08 a.m. | Last Modified: 18 Aug 2021, 10:08 a.m.

Panel Version: 0.208

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature with microcephaly and distinctive facies (MIM#615789)

Publications

• 24389050
• 27250922