Monogenic hearing loss

Gene: COL11A2

Green List (high evidence)

Comment on mode of inheritance: Confirmed on G2P and OMIM.

Created: 17 Feb 2016, 12:51 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#184840:Stickler syndrome, type III[Midface hypoplasia; Sensorineural hearing loss; No ocular symptoms; Anteverted nares; Pierre-Robin sequenceCleft palate; Epiphyseal dysplasia; Mild platyspondyly; Joint painPremature osteoarthritisLarge epiphyses]; #215150:Otospondylomegaepiphyseal dysplasia[Short stature; Small jawMidface hypoplasia; Sensorineural hearing lossMixed hearing loss; No ocular symptoms; Anteverted naresBulbous nasal tip; Cleft palatePierre-Robin sequence; Recurrent pulmonary infections; Epiphyseal dysplasia; Mandibular hypoplasia; Increased lumbar lordosisVertebral coronal clefts (newborn)Enlarged odontoid (childhood)Platyspondyly (childhood)Anterior vertebral wedging (childhood); Square iliac wings; Premature osteoarthritisJoint contracturesJoint painsEnlarged JointsDumbbell-shaped femurs (newborn)Short long bonesAbsent-small capital femoral epiphyses (infancy-early childhood)Wide flat epiphysesMetaphyseal flaring; Short handsShort fingersShort metacarpalsProminent interphalangeal joints; Large tarsal bones]; #277610:Weissenbacher-Zweymuller syndrome[Normal adult height; Micrognathia; Sensorineural hearing loss; HypertelorismProtruding eyes; Depressed nasal bridgeSnub nose; Cleft palatePierre-Robin sequence; Vertebral coronal clefts; Bulbous deformity of ischial and pubic boneBroad iliac wings; Rhizomelic limb shortening (infancy)Dumbbell widening of long bone metaphyses, especially femurs and humeriEnlarged epiphyses; Delayed psychomotor development]; #601868:Deafness, autosomal dominant 13[Congenital non-progressive, non-syndromic sensorineural hearing loss (greater mid frequency than low- or high-frequency loss)]; #609706:Deafness, autosomal recessive 53[Hearing loss, nonprogressive profound, prelingual]; #614524:Fibrochondrogenesis 2[Midface hypoplasiaMicrognathia; Small noseAnteverted nares; Respiratory compromise due to small size of thorax; Small thoraxBell-shaped thorax; Short ribsMetaphyseal cupping of ribs; Protuberant abdomen; Relatively large skull; PlatyspondylyPosteriorly narrowed vertebral bodiesDelayed ossification of the cervical vertebral bodies (in some patients); Hypoplastic ischiaDelayed ossification of ischiaHypoplastic iliaHypoplastic pubisDelayed ossification of pubis; Shortening of the long bonesWidened metaphyses]

Publications

• PMID:10581026

Comment on list classification: Evidence from OMIM of biallelic as well?

Created: 29 Jan 2016, 3:08 p.m.