CTRCT45

Cataracts 45

Clinical Characteristics

Ocular Features:

Dense white cataracts have been diagnosed as soon as 2 weeks after birth.

Systemic Features:

No dysmorphic features or psychomotor deficits have been found.

Genetics

Homozygous mutations in the SIPA1L3 gene (19q13.1-q13.2) were found in a consanguineous German family in which 2 of 3 female sibs were affected. The parents were phenotypically normal but heterozygous for the mutation.

Pedigree:

Autosomal recessive

Treatment

Treatment Options:

Surgical removal has apparently been successful.

References

Article Title:

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U. SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. Eur J Hum Genet. 2015 Dec;23(12):1627-33.

PubMed ID:

25804400

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization

Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Hum Mol Genet. 2015 Oct 15;24(20):5789-804.

PubMed ID:

26231217

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