Autosomal recessive Stickler syndrome

MedGen UID:: 1765197
•Concept ID:: C5439212
•: Disease or Syndrome

Synonym:	Stickler syndrome type 4
SNOMED CT:	Stickler syndrome type 4 (1010666007); Autosomal recessive Stickler syndrome (1010666007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Orphanet:	ORPHA250984

Definition

A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal recessive Stickler syndrome

Multiple epiphyseal dysplasia and pseudoachondroplasia
- Autosomal recessive Stickler syndrome

Recent clinical studies

Diagnosis

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M
Orphanet J Rare Dis 2022 Mar 3;17(1):97. doi: 10.1186/s13023-022-02244-6. PMID: 35241111 Free PMC Article

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW
Clin Genet 2019 Feb;95(2):325-328. Epub 2018 Nov 18 doi: 10.1111/cge.13465. PMID: 30362103

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Hudgins L
Am J Med Genet A 2018 Dec;176(12):2887-2891. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40647. PMID: 30450842 Free PMC Article

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P
Am J Med Genet A 2014 Jan;164A(1):42-7. Epub 2013 Nov 22 doi: 10.1002/ajmg.a.36165. PMID: 24273071

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862

See all (6)

Prognosis

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

See all (1)

Clinical prediction guides

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Jiang Y, Zhou L, Wang Y, Ouyang J, Li S, Xiao X, Jia X, Wang J, Yi Z, Sun W, Jiao X, Wang P, Hejtmancik JF, Zhang Q
Invest Ophthalmol Vis Sci 2023 Mar 1;64(3):14. doi: 10.1167/iovs.64.3.24. PMID: 36917121 Free PMC Article

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.

Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B
Eur J Med Genet 2019 Oct;62(10):103724. Epub 2019 Jul 14 doi: 10.1016/j.ejmg.2019.103724. PMID: 31315069

LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW
Clin Genet 2019 Feb;95(2):325-328. Epub 2018 Nov 18 doi: 10.1111/cge.13465. PMID: 30362103

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

See all (4)

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Autosomal recessive Stickler syndrome

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Consumer resources

Reviews

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